Orphanet Report Series

Rare Diseases collection

January 2013

Disease Registries in Europe

www.orpha.net

20102206

Table of contents

Methodology3 List of rare diseases that are covered by the listed registries
1- Distribution of registries by country 2- Distribution of registries by coverage 3- Distribution of registries by affiliation

4
13 14 14

Summary13

Distribution of registries by country European registries International registries

15 38 41

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Methodology

Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients. Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorisation is usually granted at a time when evidence is still limited although already somewhat convincing. This report gather the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases. Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer. The report includes data about EU countries and surrounding countries participating to the Orphanet consortium. The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature.

For any questions or comments, please contact us: contact.orphanet@inserm.fr

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

List of rare diseases that are covered by the listed registries

ORPHA Disease name Number 19 79157 35701 67046 2982 243 752 2-hydroxyglutaric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy 3-methylglutaryl-CoA synthase deficiency 3-methylglutaconic aciduria type 1 46,XX disorder of sex development 46,XX gonadal dysgenesis 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 4-hydroxybutyric aciduria 6-pyruvoyl-tetrahydropterin synthase deficiency 7q11.23 microduplication syndrome ABCD syndrome Absent tibia - polydactyly Aceruloplasminemia Achondrogenesis Achondrogenesis type 2 Achondroplasia Achromatopsia Acrokeratoderma Acromegaly ACTH-dependent Cushing syndrome Acute erythroid leukemia Acute intermittent porphyria Acute interstitial pneumonia Acute lymphoblastic leukemia Acute megacaryoblastic leukemia Acute monoblastic leukemia Acute myeloid leukemia Acute myelomonocytic leukemia Acute opioid poisoning Acute promyelocytic leukemia Addison disease Adenosine monophosphate deaminase deficiency Adrenocortical carcinoma Adult idiopathic neutropenia

ORPHA Disease name Number 829 978 99027 99000 51 52 53 665 58 56 1164 726 98791 847 60 98910 61 846 Adult Still's disease ADULT syndrome Adult-onset autosomal dominant leukodystrophy Adult-onset foveomacular vitelliform dystrophy Aicardi-Goutieres syndrome Alagille syndrome Albers-Schnberg osteopetrosis Albright hereditary osteodystrophy Alexander disease Alkaptonuria Allergic bronchopulmonary aspergillosis Alpers syndrome Alpha thalassemia - intellectual deficit syndrome Alpha thalassemia - X-linked intellectual deficit Alpha-1 antitrypsin deficiency Alpha-crystallinopathy Alpha-mannosidosis Alpha-thalassemia

ORPHA Disease name Number 2299 87 320 35704 90 23 1136 247 94 100 1201 1344 99103 2134 93575 93579 93580 3095 79669 98375 3261 3453 71203 93665 33110 99 99939 Aortic arch interruption Apert syndrome Apparent mineralocorticoid excess Arginine:glycine amidinotransferase deficiency Argininemia Argininosuccinic aciduria Arnold-Chiari malformation type II Arrhythmogenic right ventricular dysplasia Astrocytoma Ataxia-telangiectasia Atresia of small intestine Atrial cardiomyopathy with heart block Atrial septal defect, ostium secundum type Atypical hemolytic uremic syndrome Atypical hemolytic uremic syndrome with C3 anomaly Atypical hemolytic uremic syndrome with H factor anomaly Atypical hemolytic uremic syndrome with I factor anomaly Atypical Rett syndrome Autoimmune bullous skin disease Autoimmune hemolytic anemia Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy type 1 Autoimmune thrombocytopenia Autoinflammatory syndrome Autosomal agammaglobulinemia Autosomal dominant cerebellar ataxia Autosomal dominant Charcot-Marie-Tooth disease type 2E

753 22 13 96121 918 988 48818 932 93296 15 49382 79356 963 99892 318 79276 79126 513 518 514 519 517 35889 520 85138 45

231401 Alpha-thalassemia - myelodysplastic syndrome 63 64 2131 284 99756 1023 98902 69 803 754 72 77 1065 1071 77298 96346 80 81 Alport syndrome Alstrm syndrome Alternating hemiplegia of childhood Alveolar echinococcosis Alveolar rhabdomyosarcoma Ambras syndrome Amish nemaline myopathy Amyloidosis Amyotrophic lateral sclerosis Androgen insensitivity syndrome Angelman syndrome Aniridia Aniridia - cerebellar ataxia - intellectual deficit Ankyloblepharon - ectodermal defects - cleft lip/palate Anophthalmia/microphthalmia - esophageal atresia Anorectal malformation Antiphospholipid syndrome Antisynthetase syndrome

218439 Acquired cardiac rythm disease

169189 Autosomal dominant centronuclear myopathy

228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 98808 98853 73229 2314 89937 Autosomal dominant dopa-responsive dystonia Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant familial hematuria retinal arteriolar tortuosity - contractures Autosomal dominant hyper IgE syndrome Autosomal dominant hypophosphatemic rickets

100091 Adrenal/paraganglial tumor 1501 2688

206583 Adult polyglucosan body disease

100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 2334 503 266 264 265 90635 3212 98673 2783 2790 486 1797 3086 88919 1027 88644 Autosomal dominant keratitis Autosomal dominant Larsen syndrome Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy, classic type Autosomal dominant osteopetrosis type 1 Autosomal dominant osteosclerosis, Worth type Autosomal dominant severe congenital neutropenia Autosomal dominant spondylocostal dysostosis Autosomal dominant vitreoretinochoroidopathy Autosomal recessive Alport syndrome Autosomal recessive amelia Autosomal recessive ataxia, Beauce type

ORPHA Disease name Number 140922 Autosomal recessive limb-girdle muscular dystrophy type 2J 86812 Autosomal recessive limb-girdle muscular dystrophy type 2K

ORPHA Disease name Number 93383 1297 97287 1303 70589 2771 130 131 543 99001 136 1310 140 141 Brachydactyly type B Branchio-oculo-facial syndrome Bronchial endocrine tumor Bronchiolitis obliterans with obstructive pulmonary disease Bronchopulmonary dysplasia Bruck syndrome Brugada syndrome Budd-Chiari syndrome Burkitt lymphoma Butterfly-shaped pigment dystrophy CADASIL syndrome Caffey disease Campomelic dysplasia Canavan disease

206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 667 2990 90636 731 2512 99013 2311 98152 109 110 111 98895 116 117 86814 306 71518 274 1243 848 Autosomal recessive malignant osteopetrosis Autosomal recessive multiple pterygium syndrome Autosomal recessive nonsyndromic sensorineural deafness type DFNB Autosomal recessive polycystic kidney disease Autosomal recessive primary microcephaly Autosomal recessive spastic paraplegia type 7 Autosomal recessive spondylocostal dysostosis Autosomal uniparental disomy Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome Barth syndrome Becker muscular dystrophy Beckwith-Wiedemann syndrome Behcet disease Benign adult familial myoclonic epilepsy Benign familial infantile seizures Benign paroxysmal torticollis of infancy Bernard-Soulier syndrome Best disease Beta-thalassemia

280062 Calciphylaxis

171881 Cap myopathy 137667 Capillary malformation-arteriovenous malformation 147 37553 Carbamoylphosphate synthetase deficiency Cardiodysrythmic potassium-sensitive periodic paralysis Carney-Stratakis syndrome Carnitine palmitoyl transferase II deficiency Carpenter-Waziri syndrome Castleman disease Cataract with Y-shaped suture opacities Cataract, Coppock-like Cataract-microcornea syndrome Catecholamine-producing tumor Catecholaminergic polymorphic ventricular tachycardia Cat-eye syndrome Caudal regression sequence Central areolar choroidal dystrophy Central core disease Centronuclear myopathy Cerebrotendinous xanthomatosis Cerulean cataract Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 2B1 CHARGE syndrome Chediak-Higashi syndrome Chondrosarcoma Choreoacanthocytosis Chorioretinopathy, Birdshot type

167848 Cardiomyopathy 97286 157 93973 160 98985 98986 1377 717 3286 195 3027 75377 597 595 909 98989 90658 98856 138 167 55880 2388 179

169186 Autosomal recessive centronuclear myopathy 1172 Autosomal recessive cerebellar ataxia 217046 Autosomal recessive childhood-onset cortical cataract 89838 Autosomal recessive epidermolysis bullosa simplex Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive limb girdle muscular dystrophy type 2A

169446 Autosomal recessive hyper IgE syndrome 79644 79643 267

231230 Beta-thalassemia associated with another hemoglobin anomaly 231214 Beta-thalassemia major 610 1848 30391 122 124 86870 90340 126 3047 125 16 107 Bethlem myopathy Bilateral renal agenesis Biliary atresia Birt-Hogg-Dube syndrome Blackfan-Diamond disease Blastic NK-cell lymphoma Blau syndrome Blepharophimosis - epicanthus inversus - ptosis Blepharophimosis-intellectual deficit syndrome, SBBYS type Bloom syndrome Blue cone monochromatism BOR syndrome

280333 Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7 268 353 62 119 219 34514 1878 34515 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2I

169464 CD59 deficiency

157980 Bladder cancer

169079 Cernunnos-XLF deficiency

101085 Charcot-Marie-Tooth disease type 1F

223727 Bone sarcoma

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 180 68335 379 2978 521 98274 93971 187 394 1991 2001 2014 191 192 1466 31824 1198 35909 Choroideremia Chromosomal anomaly Chronic granulomatous disease Chronic intestinal pseudo-obstruction Chronic myeloid leukemia Chronic myeloproliferative disease Chudley-Lowry-Hoar syndrome Citrullinemia Classical homocystinuria Cleft lip with or without cleft palate Cleft lip/palate - intestinal malrotation cardiopathy Cleft palate Cockayne syndrome Coffin-Lowry syndrome COFS syndrome Colchicine poisoning Colonic atresia Combined deficiency of factor V and factor VIII

ORPHA Disease name Number 335 45358 88991 442 651 Congenital fibrinogen deficiency Congenital fibrosis of extraocular muscles Congenital heart malformation Congenital hypothyroidism Congenital idiopathic nystagmus

ORPHA Disease name Number 218 3214 1578 79134 1652 101 220 221 86920 98909 84132 873 83469 1666 90060 544 31828 1146 226 79166 83004 Darier disease Deaf blind hypopigmentation syndrome, Yemenite type Dehydratase deficiency DEND syndrome Dent disease Dentatorubral-pallidoluysian atrophy Denys-Drash syndrome Dermatomyositis Dermatopathia pigmentosa reticularis Desminopathy Desmin-related myopathy with Mallory body-like inclusions Desmoid disease Desmoplastic small round cell tumor Dextrocardia Diffuse alveolar hemorrhage Diffuse large B-cell lymphoma Digitalis poisoning Digitotalar dysmorphism Dihydropteridine reductase deficiency Disorder of amino acid absorption and transport Disorder of sex development of endocrine origin Distal myopathy with vocal cord weakness Distal myopathy, Nonaka type Distal renal tubular acidosis Dopa responsive dystonia due to sepiapterin reductase deficiency Dopa-responsive dystonia Dowling-Degos disease Down syndrome Dravet syndrome

210163 Congenital lethal myopathy, ComptonNorth type 68378 98905 97242 Congenital limb malformation Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy

247525 Citrullinemia type I

157973 Congenital muscular dystrophy due to LMNA mutation 34520 272 75840 Congenital muscular dystrophy with integrin deficiency Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Ullrich type Congenital nephrotic syndrome, Finnish type Congenital nonbullous ichthyosiform erythroderma Congenital plasminogen activator inhibitor type 1 deficiency Congenital primary lymphedema Congenital pulmonary airway malformation of the lung Congenital pulmonary lymphangiectasia Congenital pulmonary venous return anomaly Congenital stationary night blindness Congenital toxoplasmosis

199329 Congenital myopathy, Paradas type 839 79394 465 2416 2444 2414 3090 215 858

169082 Combined immunodeficiency due to CD3gamma deficiency 169090 Combined immunodeficiency due to CRAC channel dysfunction 911 1572 77303 99831 1329 1872 3091 973 418 97556 2040 48431 115 2140 137 85 79277 327 329 331 2020 Combined immunodeficiency due to ZAP70 deficiency Common variable immunodeficiency Common variable immunodeficiency due to an intrinsic B cell defect Common variable immunodeficiency due to an intrinsic T cell defect Complete atrioventricular canal Cone rod dystrophy Congenital abnormal systemic venous return Congenital absence/hypoplasia of fingers excluding thumb, unilateral Congenital adrenal hyperplasia Congenital and infantile nephrotic syndrome Congenital bronchobiliary fistula Congenital cataracts - facial dysmorphism - neuropathy Congenital contractural arachnodactyly Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital erythropoietic porphyria Congenital factor VII deficiency Congenital factor XI deficiency Congenital factor XIII deficiency Congenital fiber-type disproportion myopathy

178400 Distal myopathy with anterior tibial onset 600 602 18 70594 255 79145 870 33069

169826 Congenital vitamin K-dependent coagulation factors deficiency 860 2445 98990 199 54251 1529 204 2935 96253 553 79140 2686 586 213 95702 Congenitally uncorrected transposition of the great arteries Conotruncal heart malformations Coralliform cataract Cornelia de Lange syndrome Corticosteroid-sensitive aseptic abscesses Craniofacial-deafness-hand syndrome Creutzfeldt-Jakob disease Crossed polysyndactyly Cushing disease Cushing syndrome Cutaneous neuroendocrine carcinoma Cyclic neutropenia Cystic fibrosis Cystinosis Cytomegalic congenital adrenal hypoplasia

263494 DPM3-CDG syndrome 139402 Drug rash with eosinophilia and systemic symptoms 262 98896 1203 1775 303 256 1020 2379 1880 1896 90309 99875 Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Duodenal atresia Dyskeratosis congenita Dystrophic epidermolysis bullosa Early onset torsion dystonia Early-onset autosomal dominant Alzheimer disease Early-onset parkinsonism - intellectual deficit Ebstein malformation EEC syndrome Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome type 7A

101987 Constitutional neutropenia

199351 Dystonia-parkinsonism, Paisan-Ruiz type

137678 Czech dysplasia, metatarsal type

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 99876 287 285 1900 286 261 877 85438 301 302 Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, vascular type Emery-Dreifuss muscular dystrophy Endocrine tumor Enthesitis-related arthritis Ependymal tumor Epidermodysplasia verruciformis

ORPHA Disease name Number 93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

ORPHA Disease name Number 355 51608 Gaucher disease Generalized arterial calcification of infancy

93213

228429 Generalized congenital lipodystrophy with myopathy 36387 Generalized epilepsy with febrile seizuresplus context

217656 Familial isolated arrhythmogenic right ventricular dysplasia 154 155 Familial isolated dilated cardiomyopathy Familial isolated hypertrophic cardiomyopathy

171876 Generalized pseudohypoaldosteronism type 1 3221 Generalized resistance to thyroid hormone 271835 Genetic digestive tract tumor 183497 Genetic neuromuscular disease 98497 358 849 360 25 26791 365 367 366 34587 368 374 53540 1986 375 377 53693 3274 380 79476 73272 73273 2102 382 Genetic peripheral neuropathy Gitelman syndrome Glanzmann thrombasthenia Glioblastoma Glutaric acidemia type 1 Glutaric acidemia type 2 Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Goldenhar syndrome Goldmann-Favre syndrome Gollop-Wolfgang complex Goodpasture syndrome Gorlin syndrome GRACILE syndrome Granulomatous arthritis of childhood Greig cephalopolysyndactyly syndrome Griscelli disease Growth delay due to insulin-like growth factor I deficiency Growth delay due to insulin-like growth factor I resistance GTP cyclohydrolase I deficiency Guanidinoacetate methyltransferase deficiency Haddad syndrome Harlequin ichthyosis Heart tumor of the child Heart-hand syndrome type 2

100092 Enteropancreatic endocrine tumor

209886 Familial juvenile hyperuricemic nephropathy type 1 523 768 342 618 88632 569 1333 97 2348 871 1331 51083 2903 91387 84 1561 1987 994 337 249 2092 1866 48918 545 2253 908 93256 347 2053 95 24 63443 36273 44890 2368 Familial leiomyomatosis Familial long QT syndrome Familial mediterranean fever Familial melanoma Familial ocular anterior segment mesenchymal dysgenesis Familial or sporadic hemiplegic migraine Familial pancreatic carcinoma Familial paroxysmal ataxia Familial partial lipodystrophy, Dunnigan type Familial progressive cardiac conduction defect Familial prostate cancer Familial short QT syndrome Familial spontaneous pneumothorax Familial thoracic aortic aneurysm and aortic dissection Fanconi anemia Fatal infantile cytochrome C oxidase deficiency Femoral agenesis/hypoplasia Fetal akinesia deformation sequence Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone Focal dermal hypoplasia Focal dystonia Focal myositis Follicular lymphoma Foveal hypoplasia - presenile cataract Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Frasier syndrome Freeman-Sheldon syndrome Friedreich ataxia Fumaric aciduria Gastric cancer Gastric linitis plastica Gastrointestinal stromal tumor Gastroschisis

158681 Epidermolysis bullosa simplex with circinate migratory erythema 79397 257 Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex with muscular dystrophy

182067 Glial tumor

158684 Epidermolysis bullosa simplex with pyloric atresia 79396 79401 312 2199 79355 317 79278 1199 3318 31826 1959 319 324 269 733 85447 334 86820 2841 211 75376 891 540 424 31043 440 656 Epidermolysis bullosa simplex, DowlingMeara type Epidermolysis bullosa simplex, Ogna type Epidermolytic ichthyosis Epidermolytic palmoplantar keratoderma Erythrokeratoderma Erythrokeratodermia variabilis Erythropoietic protoporphyria Esophageal atresia Essential thrombocythemia Ethylene glycol poisoning Evans syndrome Ewing sarcoma Fabry disease Facioscapulohumeral dystrophy Familial adenomatous polyposis Familial amyloid polyneuropathy Familial atrial fibrillation Familial avascular necrosis of femoral head Familial benign chronic pemphigus Familial cylindromatosis Familial drusen Familial exudative vitreoretinopathy Familial hemophagocytic lymphohistiocytosis Familial hyperthyroidism due to mutations in TSH receptor Familial hypomagnesemia - hypercalciuria - nephrocalcinosis Familial hypospadias Familial idiopathic steroid-resistant nephrotic syndrome

213517 Familial ovarian cancer

168569 H syndrome 99803 457 875 1350

168796 Heart-hand syndrome, Slovenian type 178330 Heinz body anemia 2130 Hemimelia 139491 Hemochromatosis type 4

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 2132 2133 68364 448 98879 761 890 79124 449 88673 33402 64743 91378 145 30925 676 79273 3197 Hemoglobin C disease Hemoglobin E disease Hemoglobinopathy Hemophilia Hemophilia B Henoch-Schnlein purpura Hepatic veno-occlusive disease Hepatic veno-occlusive disease immunodeficiency Hepatoblastoma Hepatocellular carcinoma Hepatocellular carcinoma, childhoodonset Hepatoportal sclerosis Hereditary angioedema Hereditary breast and ovarian cancer syndrome Hereditary central diabetes insipidus Hereditary chronic pancreatitis Hereditary coproporphyria Hereditary hyperekplexia

ORPHA Disease name Number 395 Homocystinuria due to methylenetetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Hoyeraal-Hreidarsson syndrome Huntington disease Huntington disease-like 2 Hurler syndrome Hutchinson-Gilford progeria syndrome Hydrocephalus with stenosis of aqueduct of Sylvius Hyperammonemia due to N-acetylglutamate synthetase deficiency

ORPHA Disease name Number 169150 Immunodeficiency due to a late component of complements deficiency 169147 Immunodeficiency due to an early component of complement deficiency 169100 Immunodeficiency due to CD25 deficiency 70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

158032 Hemophagocytic syndrome

622 3322 399 98934 93473 740 2182 927

200421 Immunodeficiency with factor H anomaly 200418 Immunodeficiency with factor I anomaly 68367 52430 Inborn errors of metabolism Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myositis Incontinentia pigmenti Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile Refsum disease Inflammatory pseudotumor of the liver Inherited epidermolysis bullosa Intellectual deficit, X-linked choreoathetosis - abnormal behavior Intellectual deficit, X-linked, Siderius type Interauricular communication

611 464 35069 79263 1186 772 90003 79361 85295 85287 1478

101089 Hyper-IgM syndrome type 2 101090 Hyper-IgM syndrome type 3 101092 Hyper-IgM syndrome type 5 682 415 3416 416 31740 98813 681 436 2248 3332 90673 1573 2268 79354 79503 60033 33208 98482 98300 85193 747 2032 99931 69061 3002 34592 572 Hyperkalemic periodic paralysis Hyperornithinemia-hyperammonemiahomocitrullinuria Hyperostosis corticalis generalisata Hyperoxaluria Hypersensitivity pneumonitis Hypohidrotic ectodermal dysplasia with immunodeficiency Hypokalemic periodic paralysis Hypophosphatasia Hypoplastic left heart syndrome Hypoplastic tibiae - post axial polydactyly Hypothyroidism due to TSH receptor mutations Hypotrichosis with juvenile macular degeneration ICF syndrome Ichthyosis Ichthyosis hystrix of Curth-Macklin Idiopathic bronchiectasis Idiopathic hypersomnia Idiopathic inflammatory myopathy Idiopathic interstitial pneumonia Idiopathic juvenile osteoporosis Idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Idiopathic steroid-sensitive nephrotic syndrome Immune thrombocytopenic purpura Immunodeficiency by defective expression of HLA class 1 Immunodeficiency by defective expression of HLA class 2

238455 Infantile dystonia-parkinsonism

238583 Hyperphenylalaninemia

157215 Hereditary hypophosphatemic rickets with hypercalciuria 178464 Hereditary myopathy with early respiratory failure 43115 640 144 79357 46532 29072 685 82 71291 Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neuropathy with liability to pressure palsies Hereditary nonpolyposis colon cancer Hereditary palmoplantar keratoderma Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary pheochromocytomaparaganglioma Hereditary spastic paraplegia Hereditary thrombophilia due to congenital antithrombin deficiency Hereditary vascular retinopathy

171433 Intermediate nemaline myopathy 182095 Interstitial lung disease 264735 Interstitial lung disease specific to adulthood 104010 Intestinal polyposis 79159 1048 2542 557 Isobutyryl-CoA dehydrogenase deficiency Isolated anencephaly/exencephaly Isolated anophthalmia - microphthalmia Isolated anorectal malformation

238666 Isolated congenital hypogonadotropic hypogonadism 408 718 823 33 435 90647 475 93972 93672 2929 92 79264 93568 2322 Isolated glycerol kinase deficiency Isolated Pierre Robin syndrome Isolated spina bifida Isovaleric acidemia Ito hypomelanosis Jervell and Lange-Nielsen syndrome Joubert syndrome Juberg-Marsidi syndrome Juvenile dermatomyositis Juvenile gastrointestinal polyposis Juvenile idiopathic arthritis Juvenile neuronal ceroid lipofuscinosis Juvenile polymyositis Kabuki syndrome 137902 Isolated optic nerve hypoplasia

182101 Idiopathic eosinophilic pneumonia

183678 Hermansky-Pudlak syndrome with neutropenia 231500 Hermansky-Pudlak syndrome with pulmonary fibrosis 231512 Hermansky-Pudlak syndrome without pulmonary fibrosis 1930 189 388 98293 391 93970 2162 392 Herpetic encephalitis Hidrotic ectodermal dysplasia Hirschsprung disease Hodgkin lymphoma Hodgkin lymphoma, classical Holmes-Gang syndrome Holoprosencephaly Holt-Oram syndrome

248111 Juvenile Huntington disease

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 2331 480 481 494 50942 477 2908 99978 33543 485 99749 501 313 98301 2632 502 389 626 633 1202 2377 65 54260 2380 549 506 240 33108 1662 99842 99843 755 526 524 99812 263 69085 89844 79400 60030 91546 538 33001 Kawasaki disease Kearns-Sayre syndrome Kennedy disease Keratoderma hereditarium mutilans Keratosis palmoplantaris striata KID syndrome Kindler syndrome Klatskin tumor Kleine-Levin syndrome Kniest dysplasia Kostmann syndrome Lafora disease Lamellar ichthyosis Laminopathy Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans cell histiocytosis Large congenital melanocytic nevus Laron syndrome Larynx atresia Laurence-Moon syndrome Leber congenital amaurosis Left ventricular noncompaction Legg-Calv-Perthes disease Legionellosis Leigh syndrome Lri-Weill dyschondrosteosis Lethal multiple pterygium syndrome Lethal restrictive dermopathy Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leydig cell hypoplasia Liddle syndrome Li-Fraumeni syndrome LIG4 syndrome Limb-girdle muscular dystrophy Limb-mammary syndrome Lissencephaly syndrome, Norman-Roberts type Localized epidermolysis bullosa simplex Loeys-Dietz syndrome type 1 Lyme disease Lymphangioleiomyomatosis Lymphedema - distichiasis

ORPHA Disease name Number 679 3399 423 943 52417 90153 90154 52416 558 559 42642 2466 98292 562 2473 59306 3097 2006 616 98954 97338 51013 550 54370 748 551 50251 31825 2169 2170 26 Malignant atrophic papulosis Malignant germ-cell tumor Malignant hyperthermia Malonic aciduria MALT lymphoma Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mantle cell lymphoma Marfan syndrome Marinesco-Sjgren syndrome Marshall's syndrome with periodic fever MASA syndrome Mastocytosis McCune-Albright syndrome McKusick-Kaufman syndrome McLeod neuroacanthocytosis syndrome Meacham syndrome Median cleft lip/mandibule Medulloblastoma Meesmann corneal dystrophy Melanoma of soft part Melanoma-pancreatic cancer syndrome MELAS syndrome Membranoproliferative glomerulonephritis Mendelian susceptibility to mycobacterial diseases MERRF syndrome Mesothelioma Methanol poisoning Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylmalonic acidemia with homocystinuria

ORPHA Disease name Number 567 281 98503 2451 79213 587 148 68341 652 29073 321 102 588 71864 98473 589 52688 824 2587 36899 98911 Monosomy 22q11 Monosomy 5p Motor neuron disease Mucocutaneous venous malformations Mucopolysaccharidosis Muir-Torre syndrome Multiple carboxylase deficiency Multiple congenital anomalies/dysmorphic syndrome Multiple endocrine neoplasia type 1 Multiple myeloma Multiple osteochondromas Multiple system atrophy Muscle eye brain disease Muscular channelopathy Muscular dystrophy Myasthenia gravis Myelodysplastic syndromes Myelofibrosis with myeloid metaplasia Myeloperoxidase deficiency Myoclonic dystonia 11 Myotilin-related myofibrillar myopathy without spheroid body Naegeli-Franceschetti-Jadassohn syndrome Nance-Horan syndrome Narcolepsy without cataplexy Narcolepsy-cataplexy Nasopharyngeal carcinoma Nemaline myopathy Neonatal adrenoleukodystrophy Nephroblastoma Nephrogenic diabetes insipidus Netherton syndrome Neural tube defect Neuroblastoma Neurocutaneous melanocytosis Neurodegeneration with brain iron accumulation Neurodegenerative disease with dementia Neurofibromatosis type 1 Neurofibromatosis type 2 Neurofibromatosis type 3 Neurofibromatosis type 6

168999 Malignant melanoma of the mucosa

275543 L1 syndrome

228145 Multiple sclerosis variant

137871 Laminopathy type Decaudain-Vigouroux

171445 Muscle filaminopathy

199340 Muscular dystrophy, Selcen type

220465 Laron syndrome with immunodeficiency

171895 Myeloid hemopathy 182050 MYH9-related thrombocytopenia 275534 Myostatin-related muscle hypertrophy

206647 Myotonic dystrophy 69087 627 83465 2073 150 607 44 654 223 634 3388 635 2481 385 98534 636 637 93921 2678

280183 Methylmalonic aciduria due to transcobalamin receptor defect 83642 2538 1083 2543 568 58220 83463 531 68380 35698 45448 552 573 Microcytic anemia with liver iron overload Microgastria - limb reduction defect Microlissencephaly Microphthalmia - cataract Microphthalmia, Lenz type Microscopic colitis Microtia Miller-Dieker syndrome Mitochondrial disease Mitochondrial DNA depletion syndrome Miyoshi myopathy MODY syndrome Monilethrix

137617 Nephrogenic systemic fibrosis

171439 Mild nemaline myopathy

171898 Lymphoid hemopathy 223735 Lymphoma 592 97977 Macrophagic myofasciitis Malformative disorder of sex development

Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 163746 Neurologic Waardenburg-Shah syndrome 68381 71211 216 Neuromuscular disease Neuromyelitis optica Neuronal ceroid lipofuscinosis

ORPHA Disease name Number 157850 Pantothenate-kinase-associated neurodegeneration 2807 678 684 31827 90307 447 1330 98992 706 93566 93552 93567 705 99885 79189 708 709 2869 716 2896 99408 85166 64742 2905 2911 732 79358 738 79473 854 2918 98993 98913 52022 739 2922 99860 186 46135 244 541 542 90023 35689 Papilloma of choroid plexus Papillon-Lefvre syndrome Paramyotonia congenita of Von Eulenburg Paraquat poisoning Parkes Weber syndrome Paroxysmal nocturnal hemoglobinuria Partial atrioventricular canal Partial congenital cataract Patent arterial duct Pediatric Sjgren syndrome Pediatric systemic lupus erythematosus Pediatric systemic sclerosis Pendred syndrome Permanent neonatal diabetes mellitus Peroxisome biogenesis disorder-Zellweger syndrome spectrum Peters anomaly Peters-plus syndrome Peutz-Jeghers syndrome Phenylketonuria Pitt-Hopkins syndrome Pituitary adenoma Platyspondylic dysplasia, Torrance type Pleuropulmonary blastoma POEMS syndrome Poland syndrome Polymyositis Porokeratosis Porphyria Porphyria variegata Portal vein thrombosis Postaxial polydactyly Posterior polar cataract Postsynaptic congenital myasthenic syndromes Potocki-Shaffer syndrome Prader-Willi syndrome Preaxial polydactyly Precursor B-cell acute lymphoblastic leukemia Primary biliary cirrhosis Primary central nervous system lymphoma Primary ciliary dyskinesia Primary cutaneous CD30+ T-cell lymphoproliferative disease Primary cutaneous lymphoma Primary immunodeficiency syndrome due to p14 deficiency Primary lateral sclerosis

ORPHA Disease name Number 168803 Primary peritoneal tumor 2420 171 1871 172 2762 2966 35 606 70 756 757 758 98984 69084 760 764 Primary pulmonary lymphoma Primary sclerosing cholangitis Progressive cone dystrophy Progressive familial intrahepatic cholestasis Progressive osseous heteroplasia Properdin deficiency Propionic acidemia Proximal myotonic myopathy Proximal spinal muscular atrophy Pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2 Pseudoxanthoma elasticum Pulverulent cataract Pure hair and nail ectodermal dysplasia Purine nucleoside phosphorylase deficiency Pyomyositis

139512 Neuropathy with hearing impairment 183707 Neutrophil immunodeficiency syndrome 2691 77293 646 647 86867 94080 79399 547 91364 91492 87884 648 649 98991 1000 194 79431 79434 79432 79433 79435 270 75382 46484 660 661 2086 664 666 2781 2785 2788 668 64739 93460 2309 2202 98589 Nevo syndrome Niemann-Pick disease type B Niemann-Pick disease type C Nijmegen breakage syndrome Nodal marginal zone B-cell lymphoma Non secreting paraganglioma Non-Dowling-Meara generalized epidermolysis bullosa simplex Non-Hodgkin lymphoma Nonspecific interstitial pneumonia Non-syndromic congenital cataract Nonsyndromic genetic deafness Noonan syndrome Norrie disease Nuclear cataract Ocular albinism - late-onset sensorineural deafness Ocular coloboma Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculopharyngeal muscular dystrophy Oguchi disease Oligodendroglial tumor Omphalocele Ondine syndrome Optic pathway glioma Ornithine transcarbamylase deficiency Osteogenesis imperfecta Osteopetrosis Osteopetrosis with renal tubular acidosis Osteoporosis - pseudoglioma Osteosarcoma Ovarian hyperstimulation syndrome Overgrowth syndrome Pachyonychia congenita Palmoplantar keratoderma-deafness syndrome Palpebral malignant melanoma

182090 Pulmonary arterial hypertension

157987 Non-Langerhans cell histiocytosis

207119 Qualitative or quantitative defects of FKRP 3025 3022 93419 Radial ray agenesis Rapp-Hodgkin syndrome Rare bone disease

102002 Rare ataxia 180250 Rare breast tumor 101945 Rare bronchopulmonary tumor 218436 Rare cardiac rythm disease 71281 Rare central nervous system and retinal vascular disease Rare constitutional medullar aplasia Rare digestive tumor

101330 Porphyria cutanea tarda

183651 Rare constitutional anemia 68383 98059

280275 Rare disease 101953 Rare dyslipidemia 68363 97966 96210 98053 Rare dystonia Rare eye disease Rare genetic deafness Rare genetic disease 101998 Rare epilepsy

139039 Orofacial clefting syndrome

183625 Rare genetic diabetes mellitus 101435 Rare genetic eye disease 158300 Rare genetic hematologic disease 183757 Rare genetic intellectual deficit 98056 97992 Rare genetic renal disease Rare hematologic disease

248308 Rare hemorrhagic disorder 248315 Rare hemorrhagic disorder due to a coagulation factors defect 68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect

217074 Pancreatic carcinoma 180824 Pancreatic tumor 677 Pancreatoblastoma

101997 Primary immunodeficiency

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ORPHA Disease name Number 71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly

ORPHA Disease name Number 101016 Romano-Ward syndrome 2909 783 797 85146 1830 799 801 3152 841 70595 3157 Rothmund-Thomson syndrome Rubinstein-Taybi syndrome Sarcoidosis Scapuloperoneal amyotrophy Schimke immuno-osseous dysplasia Schizencephaly Scleroderma Sclerosteosis Sebocystomatosis Sensory ataxic neuropathy - dysarthria ophthalmoparesis Septo-optic dysplasia

ORPHA Disease name Number 98920 64753 86854 2440 93346 29822 84271 93220 Spinal muscular atrophy with respiratory distress Spinocerebellar ataxia with axonal neuropathy type 2 Splenic marginal zone lymphoma Split hand-split foot malformation Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spontaneous periodic hypothermia Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Stargardt disease Steinert myotonic dystrophy Stevens-Johnson syndrome Stickler syndrome Superficial epidermolytic ichthyosis

275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 101943 Rare hepatic and biliary tract tumor 220489 Rare hereditary hemochromatosis 217454 Rare hereditary thrombophilia 104012 Rare inflammatory bowel disease 87277 Rare intellectual deficit 102003 Rare movement disorder 182064 Rare neuroinflammatory or neuroimmunological disease 98026 68402 Rare odontologic disease Rare parkinsonian disorder 213500 Rare ovarian cancer 181415 Rare primary hyperaldosteronism 101944 Rare pulmonary disease 71198 93626 93603 93619 71209 98057 Rare pulmonary hypertension Rare renal disease Rare renal tubular disease Rare renal tumor Rare soft tissue tumor Rare tumor

250805 Serpinopathy 183660 Severe combined immunodeficiency 277 Severe combined immunodeficiency due to adenosine deaminase deficiency

827 273 36426 828 455

169160 Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta 169157 Severe combined immunodeficiency T- B+ due to CD45 deficiency 169154 Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency 35078 Severe combined immunodeficiency T- B+ due to JAK3 deficiency Severe congenital neutropenia Severe dilated cardiomyopathy due to lamin A/C mutation

169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 178364 Syndromic microphthalmia type 5 188 536 2467 Systemic capillary leak syndrome Systemic lupus erythematosus Systemic mastocytosis

280342 Rare rheumatological disease of childhood

180151 Rare vaginal malformation 101938 Rare vascular liver disease 94125 461 Recessive mitochondrial ataxic syndrome Recessive X-linked ichthyosis

171430 Severe congenital nemaline myopathy 42738 83618

240266 Systemic non-Langerhans cell histiocytosis 90291 883 842 3000 3303 1860 86846 614 496 93573 54057 99867 79102 3329 609 42665 65283 95455 859 99886 56970 85451 32960 Systemic sclerosis Teratoma Testicular seminoma Testotoxicosis Tetralogy of Fallot Thanatophoric dwarfism type I Therapy related acute myeloid leukemia and myelodysplastic syndrome Thomsen and Becker disease Thost-Unna palmoplantar keratoderma Thrombotic microangiopathy Thrombotic thrombocytopenic purpura Thymoma Thyrotoxic periodic paralysis Tibial aplasia - ectrodactyly Tibial muscular dystrophy Tietz syndrome Timothy syndrome Toxic epidermal necrolysis Transcobalamin II deficiency Transient neonatal diabetes mellitus Transmissible spongiform encephalopathies Transthyretin-related familial amyloid cardiomyopathy TRAPS syndrome

169142 Recurrent infection due to specific granule deficiency 183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 169467 Recurrent Neisseria infections due to factor D deficiency 60032 97239 773 774 71862 791 52427 790 90050 778 69077 177 59315 97244 97238 3103 97360 Recurrent respiratory papillomatosis Reducing body myopathy Refsum disease Rendu-Osler-Weber disease Retinal dystrophy Retinitis pigmentosa Retinitis punctata albescens Retinoblastoma Retinopathy of prematurity Rett syndrome Rhabdoid tumor Rhizomelic chondrodysplasia punctata Rhombencephalosynapsis Rigid spine syndrome Rippling muscle disease Roberts syndrome Robinow syndrome

169095 Severe T-cell immunodeficiency congenital alopecia - nail dystrophy 3162 1147 35123 Sezary's syndrome Sheldon-Hall syndrome Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

140941 Short stature due to primary acid-labile subunit deficiency 314795 Shox-related short stature 811 3166 232 Shwachman-Diamond syndrome Sialuria Sickle cell anemia

166282 Sick sinus syndrome 275752 Sickle cell disease and related diseases 251355 Sickle cell disease associated with an other hemoglobin anomaly 158014 Sinus histiocytosis with massive lymphadenopathy 93974 818 819 820 3394 59181 821 Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sneddon syndrome Soft tissue sarcoma Sorsby's fundus dystrophy Sotos syndrome

100087 Thyroid tumor

139455 Retinopathy, Burgess-Black type

284130 Rheumatoid arthritis

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ORPHA Disease name Number 861 863 2947 3378 3380 88629 3384 805 68347 53715 881 90038 308 83001 886 39044 Treacher-Collins syndrome Trichinellosis Triphalangeal thumbs - brachyectrodactyly Trisomy 13 Trisomy 18 Tritanopia Truncus arteriosus Tuberous sclerosis Tumor of hematopoietic and lymphoid tissues Tumoral calcinosis Turner syndrome Typical hemolytic uremic syndrome Unverricht-Lundborg disease Urogenital tract malformation Usher syndrome Uveal melanoma

ORPHA Disease name Number 903 894 895 896 897 893 899 3447 900 902 51636 904 905 906 280 3463 65282 910 43 47 88917 596 1497 Von Willebrand disease Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Waardenburg-Shah syndrome WAGR syndrome Walker-Warburg syndrome Weaver syndrome Wegener granulomatosis Werner syndrome WHIM syndrome Williams syndrome Wilson disease Wiskott-Aldrich syndrome Wolf-Hirschhorn syndrome Wolfram syndrome Woolly hair-palmoplantar keratodermadilated cardiomyopathy syndrome Xeroderma pigmentosum X-linked adrenoleukodystrophy X-linked agammaglobulinemia X-linked Alport syndrome X-linked centronuclear myopathy X-linked complicated corpus callosum dysgenesis

ORPHA Disease name Number 89936 37042 2442 25980 X-linked hypophosphatemia X-linked immune dysregulation polyendocrinopathy - enteropathy X-linked lymphoproliferative disease X-linked myopathy with excessive autophagy

178461 X-linked myopathy with postural muscle atrophy 54 792 662 876 2828 98912 912 98995 X-linked recessive ocular albinism X-linked retinoschisis Yellow nail syndrome Yolk sac tumor Young adult-onset Parkinsonism ZASP-related myofibrillar myopathy Zellweger syndrome Zonular cataract

182130 Tumor of endocrine glands

171723 White sponge nevus

171436 Typical nemaline myopathy

180062 Uterovaginal malformation 178338 UV-sensitive syndrome 211237 Vascular tumor 52759 1480 28 79310 79311 27 892 Vasculitis Ventricular septal defect Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-unresponsive methylmalonic acidemia Von Hippel-Lindau disease

306617 X-linked complicated spastic paraplegia type 1 52503 98863 X-linked creatine transporter deficiency X-linked Emery-Dreifuss muscular dystrophy

101088 X-linked hyper-IgM syndrome

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Summary
1- Distribution of registries by country
Country AT - Austria BE - Belgium BG - Bulgaria CH - Switzerland* CY - Cyprus CZ - Czech Republic DE - Germany DK - Denmark EE - Estonia ES - Spain FI - Finland FR - France GR - Greece HR - Croatia* HU - Hungary IE - Ireland IL - Israel* IS - Iceland* IT - Italy LT - Lithuania LU - Luxembourg LV - Latvia MK - Republic of Macedonia* MT - Malta NL - Netherlands NO - Norway* PL - Poland PT - Portugal RO - Romania RS - Serbia* SE - Sweden SI - Slovenia SK - Slovakia TR - Turkey* UA - Ukraine* UK - United Kingdom TOTAL Regional 1 2 0 1 0 0 9 1 0 4 0 18 0 0 0 4 0 0 7 0 0 0 0 0 1 0 3 1 0 0 0 0 0 0 0 13 65 National 14 16 8 5 1 4 64 3 2 33 7 93 2 1 3 7 2 2 46 1 1 1 1 1 11 4 5 11 2 4 14 2 2 4 1 45 423 European 2 2 0 1 0 0 25 0 0 2 0 12 0 0 0 0 0 0 3 0 0 0 0 0 3 3 1 0 0 0 1 0 0 0 0 7 62 Global 0 1 0 1 0 0 7 0 0 0 0 5 0 0 0 0 0 0 7 0 0 0 0 0 6 0 0 0 0 0 3 0 0 0 0 5 35 not defined 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 total 18 21 8 8 1 4 105 4 2 39 7 130 2 1 3 11 2 2 63 1 1 1 1 1 21 7 9 12 2 4 18 2 2 4 1 70 588

*surrounding countries participating to the Orphanet consortium

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2- Distribution of registries by coverage

COVERAGE Regional National European Global Not defined TOTAL NUMBER OF REGISTRIES 65 423 62 35 3 588

3- Distribution of registries by affiliation

AFFILIATION Public Private non-for-profit Private for-profit TOTAL

NUMBER OF REGISTRIES 495 44 49 588

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Distribution of registries by country

AT - AUSTRIA (18 registries)

English label of the activity Austrian acromegaly registry Austrian alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry (AIR) Austrian cancer registry - contributes to the RARECARE project Austrian chronic myeloid leukemia registry Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Austrian GIST registry Austrian Haemophilia Registry Austrian Huntington disease registry Austrian myeloma registry Austrian registry for inborn errors of metabolism Austrian severe chronic neutropenia patient registry contributes to the SCN international registry (SCNIR) Children cardiology registry EB Registry EMSA-SG: central patient registry of the European multiple system atrophy network ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Lung- and pleura cancer registry MDS: Austrian myelodysplastic syndromes patient registry Styrian registry of congenital anomalies - contributes to the EUROCAT network Coverage National National National National National National National National National National National National Not defined European European National National Regional AFFILIATION Public Public Public Public Private for-profit Private non-for-profit Public Private for-profit Private non-for-profit Public Public Public Public Public Private non-for-profit Public Public Public

BE - BELGIUM (21 registries)

English label of the activity ACROBEL: the Belgian registry on acromegaly, epidemiology and quality of care Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Belgian alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry (AIR) Belgian cystic fibrosis patient registry (BMR-RBM) contributes to the EUROCARE CF and the ECFS registries Belgian familial adenomatous polyposis registry Belgian Neuromuscular Disease Registry Coverage National Regional National National National National AFFILIATION Private for-profit Private for-profit Public Public Private non-for-profit Private non-for-profit

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Belgian patient database for Wilson disease - contributes to the EuroWilson registry Belgian patient registry for rare bleeding disorders contributes to the RBDD international registry Belgian registry of primary immunodeficiencies contributes to the ESID European registry Belgian rituximab therapy registry for immune anemia and thrombocytopenia Belgian severe chronic neutropenia patient registry contributes to the SCN international registry (SCNIR) Belgian sickle cell anemia registry Belgian systemic sclerosis cohort ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood EUNEFRON: registry of the European network for the study of orphan nephropathies EURECHINOREG: Belgian contribution to the European registry of human alveolar echinococcosis EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation Haemoglobinopathies - database Hainault and Namur registry of congenital anomalies contributes to the EUROCAT network LCH: Belgian Langerhans cell histiocytosis registry Pediatric granulomatous arthritis international registry

National National National National National National National National European National European National Regional National Global

Public Public Private for-profit Public Public Public Public Private non-for-profit Public Public Private for-profit Private for-profit Public Public Private for-profit

BG - BULGARIA (9 registries)
English label of the activity Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network National registry of adult patients with chronic myeloid leukemia - BG National registry of patients with Gaucher disease - BG National registry of patients with mucopolysaccharidosis type II (MPS2) - BG National registry of patients with phenylketonuria - BG National registry of patients with primary immunodeficiencies (PID) - BG National registry of patients with thalassaemia major - BG National registry of patients with Wilson disease - BG Coverage National AFFILIATION Private for-profit

National National National National National National National

Public Public Public Public Public Public Public

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

CH - SWITZERLAND (8 registries)
English label of the activity Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Switzerland contributes to the TREAT-NMD network Perihilar Cholangiocarcinoma International Registry PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) Swiss registry of biliary atresia - contributes to the EBAR registry Vaud registry of congenital anomalies - contributes to the EUROCAT network Coverage National AFFILIATION Public

Global European National National National National Regional

Public Public Public Public Public Public Public

CY - CYPRUS (1 registry)
English label of the activity Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

CZ - CZECH REPUBLIC (4 registries)

English label of the activity Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT-NMD network Coverage National National National AFFILIATION Public Public Private for-profit

National

Private for-profit

DE - Germany (105 registries)

DE-English label of the activity AID-NET : German registry for autoinflammatory syndromes (children) ALS registry Nordrhein-Westfalen ALS registry Rheinland-Pfalz ALS registry swabia Ataxia-Telangiectasia patient registry - contributes to the ESID Database Coverage National Regional Regional Regional National AFFILIATION Public Public Public Public Public

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CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria Central Cutaneous Lymphoma Registry Centre Saxony-Anhalt registry of congenital anomalies contributes to the EUROCAT network Child liver tumor registry Childrens IBD registry in Saxony CMMR: Central Malignant Melanoma Registry in Germany CompERA-XL: International, prospective registry for the documentation of first-line and maintenance therapy in patients with pulmonary hypertension Conn Registry: German registry of primary aldosteronism Core documentation of rheumatic children in Germany CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors CURE-Net : National registry for congenital uro-rectal malformations CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults DSAK tumor registry for documentation of tumors of the face and jaws in Germany, austria and switzerland Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network EBAR: European Biliary Atresia Registry EHDN: European Huntington's disease registry EHDN: neuroacanthocytosis patient registry EKRS: Saarland Cancer Registry - contributes to the RARECARE Project ENETS: European Neuroendocrine Tumour Registry EPICURE-registry: European Epilepsy Brain patient Registry Epidemiological cancer registry Baden-Wrttemberg ESID: European registry of primary immunodeficiencies EU-RHAB: European Rhabdoid Tumor Registry eurIPFreg: European idiopathic pulmonary fibrosis registry EURIPIDES: European Registry for ICD and CRT devices in pediatrics and adults with congenital heart disease EUROFA - EFACT: European Friedreich Ataxia Registry European Alport therapy registry European patient registry for intoxication type metabolic diseases (E-IMD) EUROSCA-R: European patient registry on spinocerebellar ataxias EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe) FACE - National registry for Robin sequence

European National Regional National Regional National European

Public Public Public Public Public Public Public

National National Global National European

Public Public Public Public Public

European National

Public Public

European European Global Regional European European Regional Global European European European European European European European European

Public Public Public Private non-for-profit Public Public Public Public Public Public Private non-for-profit Public Public Public Public Public

National

Public

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

GeNeMove: German database for wilson disease German acromegaly registry German adrenal tumors registry German AID (Autoinflammatory disorders) registry -subproject AID-NET German alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry (AIR) German calciphylaxis registry German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System) German cystic fibrosis registry - contributes to the EUROCARE CF registry German Epilepsy Registry German Fanconi anemia registry German gastrointestinal stromal tumor registry German Haemophilia Registry (DHR) German marginal zone lymphoma registry German mucopolysaccharidosis patient registry German multiple endocrine neoplasia type 1 (MEN 1) registry German national case collection of familial pancreatic cancer German paroxysmal nocturnal hemoglobinuria registry German pituitary tumors registry German registry for congenital heart defects - part of the competence network for congenital heart defects German registry for congenital thrombocytopenia German registry for Morbus Adamantiades-Behet e.V. German registry for papulosis atrophicans maligna German registry for patients with pulmonary hypertension German registry of congenital dyserythropoietic anemias (CDA) German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) German vasculitis registry GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related diseases GOLDnet: Registry for Diffus Parenchymal Lung Disease HepNet: German hepatocellular carcinoma (HCC) registry International pheochromocytoma and paraganglioma registry INVM (Isolated Noncompaction of Ventricular Myocardium) registry Kids Lung Register: International register and biobank for rare lung diseases KINDLERNET: Central patient registry Kindler syndrome

National National National National National National National National National National National National National National National National National National National National National National National National National National National National National Global National European European

Public Public Private non-for-profit Public Public Public Private non-for-profit Public Public Public Public Public Public Public Public Public Public Private non-for-profit Private non-for-profit Public Private non-for-profit Public Public Public Public Public Public Public Public Public Private for-profit Public Public

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LBL Registry: Registry for children with lymphoblastic lymphoma LCH: German Langerhans cell histiocystosis registry Lupus nephritis registry (established by the german paediatric nephrology association) Mainz registry of congenital anomalies - contributes to the EUROCAT network MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar-THROmbose-Register) MDS: German myelodysplastic syndromes patient registry MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease National FKRP-patient registry Germany - part of the TREAT-NMD network National nephrogenic systemic fibrosis registry National registry for Blackfan-Diamond disease NCL-Registry: International neuronal ceroid lipofuscinoses patient registry NET-Registry: German neuroendocrine gastrointestinal tumors Neuromyelitis optica patient registry NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents NIRK: national central registry for ichthyoses and related keratinization disorders NIRK: patient registry for autosomal recessive congenital ichthyosis NKR: German registry for adrenocortical carcinoma OSTEOPETR: International registry of patients suffering from osteopetrosis Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network Patient registry of the German Network for Systemic Scleroderma PID-NET: National registry of primary immunodeficiencies PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients Prospective inception cohort for juvenile Systemic Sclerosis PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN) RAMEDIS : Rare Metabolic Diseases Database

National National National Regional National National European National National National European National National European

Public Private non-for-profit Public Public Public Public Public Public Public Public Public Public Public Public

National National National Global National National National European Global National

Public Public Public Public Public Public Public Public Public Public

National

Public

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Orphanet Report Series - Disease Registries in Europe - January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry Register for rare myeloproliferative neoplasms Registry for congenital melanocytic nevi and neurocutaneous melanocytosis Registry for Merkel Cell Carcinoma Registry for patients with mitochondrial diseases (mitoREGISTER) - subproject of mitoNET Registry for Patients with WT1 Mutation Associated Diseases Registry for rare tumor in children RetDis Database: clinical descriptions of patients and families with inherited eye diseases STER: FVII deficiency treatment international registry Tumor Registry of Lymphatic Neoplasia (TNL-Registry): Epidemiological registry describing treatment reality and therapy modalities of patients with malignant Lymphatic Systemic Diseases (Non-Hodgkin`s Lymphoma, Chronic Lymphocytic Leukemia and Multiple Myeloma) requiring therapy Von Hippel-Lindau registry

European

Public

European National National National National National European Global National

Public Private non-for-profit Public Public Public Public Public Public Private for-profit

Regional

Public

DK - DENMARK (4 registries)
English label of the activity Danish cystic fibrosis patient registry - contributes to the EUROCARE CF registry Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG) Funen county registry of congenital anomalies contributes to the EUROCAT network Mendelian cytogenetics network online database Coverage National National Regional National AFFILIATION Public Public Public Public

EE - ESTONIA (2 registries)
English label of the activity Estonian cancer registry - contributes to the RARECARE project Estonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National National AFFILIATION Public Public

ES - SPAIN (39 registries)

English label of the activity Asturias registry of congenital anomalies - contributes to the EUROCAT network Barcelona birth defects registry - contributes to the EUROCAT network Coverage Regional Regional AFFILIATION Public Public

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Budd-Chiari syndrome (BCS) and hepatic vascular diseases registry Database of Thrombotic Microangiopathies and Dense Deposit Disease ERCUSYN: European registry on Cushing's syndrome Fanconi anemia patient registry database MOLDIAG-PACA: patient registry of pancreatic cancer REA: Acromegaly Spanish registry RECOMINA: patient registry of microscopic colitis and study of the environmental risk factors REDIP: Spanish registry of primary immunodeficiencies contributes to the ESID European registry Registro MEN: Spanish registry of multiple endocrine neoplasia Registry for rare disorders in Extremadura (Spain) Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network REHAP: Spanish Registry of Pulmonary Arterial Hypertension RETEGEP: Spanish Registry of Gastroenteropancreatic Endocrine Tumors RETEGEP: Spanish Registry of Gastroenteropancreatic Neuroendocrine Tumors REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes Spanish alpha-1 antitrypsin deficiency registry (REDAAT) contributes to the Alpha One International Registry (AIR) Spanish Familial Adenomatous Polyposis Registry Spanish Gaucher's disease registry Spanish Overgrowth Syndrome Registry Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network Spanish patient registry of ataxias Spanish patient registry of hereditary angioedema Spanish patient registry of hereditary retinal dystrophy Spanish patient registry of McArdle disease Spanish patient registry of myelodysplasic syndromes Spanish patient registry of primary tubulopathies Spanish patient registry of rare diseases: multiple endocrine neoplasia, acromegaly and enteropancreatic endocrine tumors. Spanish patient registry of transmissible spongiform encephalopathies Spanish Registry of Ataxias and Spinocerebellar Neurodegenerative Diseases Spanish Registry of Cushing Syndrome Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network

National National European National European National National National National Regional Regional National National National National National National National National National National National National National National National National

Public Public Public Public Public Public Private non-for-profit Public Public Public Public Public Private non-for-profit Private non-for-profit Public Public Public Private non-for-profit Public Public Private non-for-profit Public Public Public Public Public Public

National National National National

Public Public Private non-for-profit Public

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Spanish registry of metabolic hereditary diseases Spanish registry of patients with fragile X syndrome Spanish registry of POEMS syndrome patients (Osteosclerotic myeloma) Spanish Registry of Rare Diseases Spanish registry of renal hereditary diseases Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National National National National National National

Private non-for-profit Public Public Public Public Public

FI - FINLAND (7 registries)
English label of the activity Finnish cancer registry - contributes to the RARECARE project Finnish Hematology Register and Biobank - FHRB Finnish IPF registry Finnish patient registry on Fabry disease Finnish TREAT-NMD Patient Registry Register of Congenital Malformations The Finnish Register of Visual Impairment Coverage National National National National National National National AFFILIATION Public Public Public Public Private non-for-profit Public Private non-for-profit

FR - FRANCE (130 registries)

English label of the activity Aquitaine registry of mesothelioma Auvergne registry of congenital anomalies - contributes to the EUROCAT network Bas-Rhin registry of congenital anomalies - contributes to the EUROCAT network Basse Normandie registry of hematological malignancies BLAU registry: French pediatric granulomatous arthritis registry Breast and other gynecological cancers registry of Cte-d'Or CEREDIH: French primary immunodeficiencies registry CoF-AT study: a French cohort on ataxia-telangiectasia Cohort of patients affected by Marfan or related syndrome Cohort of patients with hereditary dystrophies of retina Cte d'Or registry of hematological malignancies Cystadane post marketing registry of patient with homocystinuria D[4]/Phenodent: French registry of patients affected by rare odontologic diseases Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related neurological disorders Coverage Regional Regional Regional Regional National Regional National National National Not defined Regional European National National National AFFILIATION Public Public Public Public Public Public Public Public Public Public Public Private for-profit Public Public Public

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EDMUS: European Database for Multiple Sclerosis and other related diseases EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis ENET Registry: European Neuro-Endocrine Tumors Group EPI-EPNET: European hepatic and erythropoietic porphyrias registry EPIMAD: registry of chronic inflammatory intestine diseases in North-West Escort-Hu: European sickle cell disease cohort- hydroxyurea Establishment of children and adolescents cohort in Behcet disease in France EU-CHS: European central hypoventilation syndrome registry EURECHINOREG: European registry of alveolar echinococcosis European multicenters SCLS (systemic capillary leak syndromes) registry European prospective registry of children born to mothers affected by the antiphospholipids syndrome EUROTRAPS: European patient registry on TRAPS syndrome FranceCoag: French prospective cohort of patients affected with haemophilia or severe form of other hereditary hemorrhagic diseases except platelet disorders French acromegaly registry French addictive acute intoxications cohort French amyotrophic lateral sclerosis patient registry French atypical sarcodosis clinical forms registry French auto-immunity and Rituximab (AIR) registry: prospective study of patients treated with Rituximab French bradykinic idiopathic angioneurotic edema and oestrogen-sensitive registry French central hypoventilation syndrome registry - will contribute to the European CHS registry French certified patient registry for Langerhans cell histiocytosis French certified registry of glycogen storage disease type 2 French certified registry of patients affected by Gaucher disease French certified registry of patients affected by thalassemia French cohort creation in retinitis pigmentosa French cohort for auto-inflammatory diseases French cohort in genetic microcephalies French cohort in primary ciliary dyskinesia French cohort of acquired autoimmune haemolytic anemia French cohort of Castleman's disease French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)

European European National European Regional European National European European European European European National

Public Public Public Public Public Private for-profit Public Public Public Public Public Public Public

National National National National National National National National National National National National National National National National National National

Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public

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French cohort of focal dystonia famillies French cohort of idiopathic pulmonary fibrosis French cohort of inflammatory bowel disease (IBD) French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms) French cohort of rhombencephalosynapsis French cohort of Usher syndrome French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo French constitutive hematologic diseases registry French cystic fibrosis cohort and CFTR-RD cohort French cystic fibrosis patient registry French cystinosis registry French epidemiological registry of esophageal atresia French familial cardiac malformations registry French national patients registry on rare peritoneal tumor RENAPE French observatory of biliary atresia French observatory of gastric linitis plastica French observatory of primary biliary cirrhosis French observatory of primitive sclerosing cholangitis French patient registry affected by genetic deafness in France French patient registry in chorioretinopathy, birdshot type French pediatric registry of rituximab treated patients affected by severe systemic diseases - contributes to the French AIR registry French prospective follow-up cohort of child affected by autoimmune haemolytic anemia (AHAI), Evans syndrome and thrombocytopenic autoimmune purpura (ATP) French register of the SDH-related hereditary paraglioma French registry for macrophagic myofasciitis French registry for right arrythmogenic ventricular dysplasia (ARVC/D) French registry of autosomal recessive polycystic kidney disease French registry of cases of spontaneous periodic hypothermia French registry of child atypical hemolytic uremic syndrome French registry of child hematological malignancies French registry of children solid tumors French registry of corticosteroid-sensitive aseptic abscess French registry of familial and premature prostate cancers (before 50 years) French registry of generalized resistance to thyroid hormone French registry of hereditary dyslipidemia in children: familial combined dyslipidemias

National National National National National National National National National National National National National Not defined National National National National National National National

Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public

National

Public

National National National National National National National National National National National National

Public Public Public Public Public Public Public Public Public Public Public Public

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French registry of Iron overload genetic rare diseases, nonrelated to the HFE gene French registry of Kabuki syndrome French registry of Marshall's syndrome with periodic fever French registry of neuromuscular diseases from reference centres French registry of patients affect by Leber amaurosis and retinitis pigmentosa to assess the clinical trial in gene therapy French registry of rare genetic metabolism disorders of steroids - contributing to the international RGSDC registry French registry of rare hypersomnias French registry of rare pulmonary hypertension (HTAP) French registry of tetrahydrobiopterin deficiencies French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR) French sickle cell anemia registry French Still disease patient registry French Williams syndrome cohort FROG: FRench Observatory on Gaucher disease GENEPSO: French epidemiological cohort of BRCA systemic mutations carriers Gironde registry of hematological malignancies GMF: French registry of myelodysplastic syndromes and leukemia chemo- and radio-induced GTE: French registry of endocrine tumors Idiopathic pulmonary fibrosis: Cohort studies for evaluation of pronostic factors, therapeutic evaluation Infevers : The registry of Hereditary Auto-inflammatory Disorders Mutations ITINERAIR-HTAP: French cohort of adult with pulmonary arterial hypertension ITINERAIR-pediatrie: French cohort of children with pulmonary arterial hypertension ITINERAIR-scleroderma: French pulmonary arterial hypertension screening cohort of patients with scleroderma KAWA-NET: epidemiological database of Kawasaki disease in France LEA: children and adolescents with acute leukemia : propective cohort in France Left ventricular noncompaction French registry Mesothelioma cohort in Seine Saint-Denis and Val de Marne Myotonic dystrophy patient registry in France - part of the TREAT-NMD network National database for the study and follow-up of paediatric rare tumors. Paris registry of congenital anomalies - contributes to the EUROCAT network

National National National National National

Public Public Public Public Public

National National National National National National National National National National Regional National National National Global National National National National National National Regional National National Regional

Public Public Public Public Public Public Public Private for-profit Private for-profit Public Public Public Public Public Public Private for-profit Private for-profit Private for-profit Public Public Public Public Public Public Public

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PGRx : Immune thrombocytopenic purpura (ITP) PGRx : Lupus PGRx : Myositis PGRx: Suspected rheumatoid arthritis PHA1-NET: PseudoHypoAldosteronism type 1 cohort POLA: French patient registry of high level oligodendroglioma Primary central nervous system tumors registry of Gironde Regional registry of thyroid cancers in Rhne-Alpes Registre multicentrique vocation nationale des msothliomes pleuraux (registre qualifi) Registry and pronostic cohort of cutaneous lymphomas in Aquitaine Registry for digestive cancers in Burgundy Registry of digestive tumors in Calvados (province of France) Registry of heriditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis) Registry of observed trichinellosis cases in France yearly Registry of the network studying thrombotic microangiopathies Rhne-Alpes registry of congenital anomalies - contributes to the EUROCAT network Rhne-Alpes registry of systemic mastocytosis SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin E deficiency

Global Global Global Global National National Regional Regional National Regional Regional Regional Regional National National Regional Regional National European

Private non-for-profit Private non-for-profit Private non-for-profit Private non-for-profit Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public

European

Private for-profit

GR - GREECE (2 registries)
English label of the activity Greek cystic fibrosis patient registry - contributes to the EUROCARE CF registry Greek severe chronic neutropenia patient registry contributes to the SCN international registry (SCNIR) Coverage National National AFFILIATION Private for-profit Public

HR - CROATIA (1 registry)
English label of the activity Croatian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

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HU - HUNGARY (3 registries)
English label of the activity Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Hungary contributes to the TREAT-NMD network Hungarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Coverage National AFFILIATION Private for-profit

National National

Private for-profit Public

IE - IRELAND (11 registries)

English label of the activity CFRI: The Cystic Fibrosis Registry of Ireland - contributes to the EUROCARE CF registry Dublin registry of congenital anomalies - contributes to the EUROCAT network Galway registry of congenital anomalies - contributes to the EUROCAT network Irish myelodysplastic syndromes specific registry Irish registry for Bernard-Soulier syndrome Irish registry of amyotrophic lateral sclerosis and motor neurone disease Irish registry of Hurler syndrome Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) National Irish alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry (AIR) South East of Ireland registry of congenital anomalies part of BINOCAR and EUROCAT network South of Ireland registry of congenital anomalies contributes to the EUROCAT network South of Ireland registry of congenital anomalies contributes to the EUROCAT network Coverage National Regional Regional National National National National National National Regional Regional Regional AFFILIATION Public Public Public Public Public Public Public Public Private non-for-profit Public Public Academia

IL - ISRAEL (2 registries)
English label of the activity Israeli cystic fibrosis patient registry - contributes to the EUROCARE CF registry Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Coverage National National AFFILIATION Private for-profit Public

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IS - ICELAND (2 registries)
English label of the activity Icelander cancer registry - contributes to the RARECARE project Icelander cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National National AFFILIATION Public Private for-profit

IT - ITALY (63 registries)

English label of the activity AICE: Italian registry of hemophilia centre AIR: Italian alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry Arrhythmogenic right ventricular cardiomyopathy/ dysplasia: clinical registry and database, evaluation of therapies Campania registry of congenital anomalies - contributes to the EUROCAT network Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network Enroll-HD - A Prospective Registry Study in a Global HD Cohort EUROFEVER: European registry for autoinflammatory diseases EURO-WABB: Registry for Wolfram syndrome, Alstrm syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes EuroWilson: Registry and network tio improve the management of Wilson Disease FMF: Italian registry for familial mediterranean fever in the young Friedreich's ataxia Italian patient registry GLATIT: Glanzmann thrombasthenia Italian registry HAE-registry: European hereditary angioedema patient registry IBAHC: Italian registry for alternating hemiplegia of childhood International registry of bone fragility fractures in the young International Registry of congenital dyserythropoietic anemia II International Registry of Rare Bleeding Disorders (RBDD) International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura IPERN: Registro di pazienti affetti da atrite giovanile idiopatica trattati con anti-TNF ISMAC: Sicilian registry of congenital anomalies contributes to the EUROCAT network Coverage National National National AFFILIATION Public Public Public

Regional National

Public Private non-for-profit

Global Global European

Public Public Public

European National National National European National Global Global Global Global National Regional

Public Public Private non-for-profit Public Public Private non-for-profit Public Public Private non-for-profit Private non-for-profit Public Public

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Italian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Italian genetic movement disorders registry Italian HLH Registry Italian LCH Registry Italian Li-Fraumeni syndrome registry Italian neuroblastoma registry Italian registry for Cri du Chat syndrome (monosomy 5p) Italian registry for hereditary multiple exostoses Italian registry for MYH9-related thrombocytopenia Italian registry for patients with Shwachman Diamond Syndrome Italian registry of adult patients affected by familial mediterranean fever Italian registry of congenital nephrotic syndromes Italian registry of Creutzfeldt-Jakob disease and correlated syndromes Italian registry of diffuse infiltrative pneumopathies Italian registry of hemolytic uremic syndrome Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease Italian registry of Legionellosis Italian registry of membranoproliferative glomerulonephritis Italian registry of muscle channel-diseases Italian registry of myotonic dystrophies Italian registry of patients and families affected by Pseudoxanthoma Elasticum Italian registry of skeletal dysplasia Italian retinoblastoma registry MITOCON: National registry mitochondrial disease MODY: Italian registry of maturity onset diabetes of the young North-east Italy registry of neurofibromatosis North-East of Italy registry of congenital anomalies contributes to the EUROCAT network RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network Regional registry for neuromuscular disorders Registry of inherited bleeding disorders in Emilia Romagna region Registry of pregnant patients affected by essential thrombocythemia RIAF: Fanconi's anemia Italian registry RIAT: Ataxia teleangiectasia Italian registry RIMM: Italian registry for myelofibrosis with myeloid metaplasia

National National National National National National National National National National National National National National National National National National National National National National National National National Regional Regional National Regional Regional National National National National

Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Private non-for-profit Public Private non-for-profit Public Public Public Public Public Public Public Public Public Private non-for-profit Public Public Public Public Public Public

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RISMD: Italian myelodysplastic syndromes registry RNIC: National Registry of Infant with Congenital Hypothyroidism SCNIR: Italian severe chronic neutropenia registry contributes to the SCN international registry Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to european Treat-NMD network Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network TTP: International registry on thrombotic thrombocytopenic purpura Tuscany registry of congenital anomalies - contributes to the EUROCAT network V-RIAT: variant Ataxia telangiectasia Italian registry

National National National National National National Global Regional National

Private non-for-profit Public Public Public Public Public Private non-for-profit Public Public

LT - LITHUANIA (1 registry)
English label of the activity Lithuanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

LU - LUXEMBOURG (1 registry)
English label of the activity Luxembourgers cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

LV - LATVIA (1 registry)
English label of the activity Latvian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

MK - REPUBLIC OF MACEDONIA (1 registry)

English label of the activity Macedonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National AFFILIATION Private for-profit

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MT - MALTA (1 registry)
English label of the activity Maltese cancer registry - contributes to the RARECARE project Coverage National AFFILIATION Public

NL - NETHERLANDS (21 registries)

English label of the activity CONCOR: Dutch registry of patients with a congenital heart malformation DDRMD - Dutch Diagnosis Registration Metabolic Diseases Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of the TREAT-NMD network Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) Dutch cystic fibrosis patient registry - contributes to the EUROCARE CF registry Dutch patient registry for Fabry disease Dutch patient registry for Gaucher disease Dutch patient registry for Niemann-Pick Disease Type B Dutch patient registry for Niemann-Pick Disease Type C Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) ECARUCA: cytogenetic and clinical database on rare chromosomal disorders EPCOT: European prospective cohort on thrombophilia International Dystrophic Epidermolysis Bullosa Patient Registry Nephrotic syndrome registry North Netherlands registry of congenital anomalies contributes to the EUROCAT network PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands The intenational Pompe registry The International Collaborative Gaucher Group (ICGG) Gaucher registry The international Fabry registry The international Mps I registry X-ALD: X-linked adrenoleukodystrophy database Coverage National National National National National National National National National National European European Global Global Regional National Global Global Global Global European AFFILIATION Private for-profit Public Public Public Private non-for-profit Public Public Public Public Public Public Private for-profit Public Public Public Public Private for-profit Private for-profit Private for-profit Private for-profit Public

NO - NORWAY (7 registries)
English label of the activity EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA) European Porphyria Registry (EPR) HUE-MAN patient registry on alpha mannosidosis Coverage European European European AFFILIATION Public Public Public

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Norvegian Porphyria Registry Norwegian cancer registry - contributes to the RARECARE project Norwegian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Norwegian severe chronic neutropenia registry contributes to the SCN international registry (SCNIR)

National National National National

Public Public Public Public

PL - POLAND (9 registries)
English label of the activity Cracow cancer registry - contributes to the RARECARE project Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Poland contributes to the TREAT-NMD network EHDN: Observational Study of the European Huntington's Disease Network Kielce cancer registry - contributes to the RARECARE project Polish cystic fibrosis patient registry - contributes to the EUROCARE CF registry Polish registry of primary immunodeficiencies - contributes to the ESID European registry Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) PRCM: Polish registry of congenital malformations contributes to the EUROCAT network Warsaw cancer registry - contributes to the RARECARE project Coverage Regional National AFFILIATION Public Public

European Regional National National National National Regional

Public Public Public Public Public Public Public

PT - PORTUGAL (12 registries)

English label of the activity Adrenal tumor national registry Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network Pituitary tumors national registry Portuguese cystic fibrosis patient registry - contributes to the EUROCARE CF registry Portuguese Fabry registry Portuguese registry for alpha-1 antitrypsin deficiency Portuguese registry of biliary atresia - contributes to the EBAR registry Portuguese registry of primary immunodeficiency diseases (REPORID) Portuguese Rett syndrome registry Coverage National National National National National National National National National AFFILIATION Public Public Public Private for-profit Public Private non-for-profit Public Public Public

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Portuguese severe chronic neutropenia patient registry contributes to the SCN international registry (SCNIR) RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network) Southern Portugal cancer registry - contributes to the RARECARE project

National National Regional

Public Public Public

RO - ROMANIA (2 registries)
English label of the activity Romanian biliary atresia registry Romanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National National AFFILIATION Public Private non-for-profit

RS - SERBIA (4 registries)
English label of the activity Serbian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Serbian registry of hemophilia and von Willebrand disease patients Serbian registry of patients with rare bleeding disorders contributes to the RBDD international registry Serbian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Coverage National National National National AFFILIATION Public Public Public Public

SE - SWEDEN (18 registries)

English label of the activity FOS : Fabry Outcome Survey HOS : Hunter Outcome Survey IOS : Icatibant Outcome Survey for hereditory angioedema National registry on bronchopulmonary dysplasia SPAHR: Swedish Pulmonary Arterial Hypertension Registry SWEDCON: Swedish Registry of Congenital Heart Disease Swedish Acute Lymphoblastic Leukemia Registry Swedish Acute Myelogenous Leukemia Registry Swedish alpha-1 antitrypsin deficiency registry contributes to the Alpha One International Registry (AIR) Swedish and Finnish registry of CADASIL patients Swedish Childhood Cancer Registry Swedish Chronic Myeloid Leukemia Registry Swedish cystic fibrosis patient registry - contributes to the EUROCARE CF registry Swedish Multiple Myeloma Registry Swedish Polyposis Registry Coverage Global Global Global National National National National National National European National National National National National AFFILIATION Private for-profit Private for-profit Private for-profit Public Public Public Public Public Public Public Public Public Public Public Public

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Swedish Registry for Familial Amyloid Polyneuropathy Swedish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) SWEDROP: Swedish Registry for Retinopathy of Prematurity

National National National

Public Public Private for-profit

SI - SLOVENIA (2 registries)
English label of the activity Slovenian cancer registry - contributes to the RARECARE project Slovenian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National National AFFILIATION Private for-profit Public

SK - SLOVAKIA (2 registries)
English label of the activity Slovakian cancer registry - contributes to the RARECARE project Slovakian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Coverage National National AFFILIATION Public Private for-profit

TR - TURKEY (4 registries)
English label of the activity Database setup for the visualisation and examination of oral ulcers in Behcet disease patients Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey contributes to the TREAT-NMD network Turkish cystic fibrosis patient registry - contributes to the EUROCARE CF registry Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Coverage National National AFFILIATION Public Private for-profit

National National

Public Public

UA - UKRAINE (1 registry)
English label of the activity Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network Coverage National AFFILIATION Private for-profit

UK - UNITED KINGDOM (70 registries)

English label of the activity AOMIC: adult onset myositis immunogenetic collaboration Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry Coverage National National AFFILIATION Public Public

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BPOLD: British Paediatric Orphan Lung Disease Registry CARIS - Welsh registry of congenital anomalies - part of BINOCAR and EUROCAT network CAROBB - congenital anomalies registry for Oxfordshire, Berkshire & Buckinghamshire - part of the BINOCAR and EUROCAT network CRANE: patients registry with cleft lip and/or cleft palate in England and Wales Donors of rare blood types database (part of ENERCA) DRN 377: Clinical Register for Transient Neonatal Diabetes DYSCERNE's dysmorphology diagnostic system (DDS) EBV associated NK/T cell malignancies registry EHDN: registry of juvenile Huntington's disease EMSYCAR - East Midlands & South Yorkshire congenital anomalies registry - part of BINOCAR and EUROCAT network English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) English central hypoventilation syndrome registry - will contribute to the European CHS English cystic fibrosis database English cystic fibrosis patient registry - contributes to the EUROCARE CF and ECFS registries English cystinosis registry English hereditary angioedema patient registry - part of the HAE European registry English hyperoxaluria registry English juvenile dermatomyositis registry and repository English mucopolysaccharidosis registry English phenylketonuria registry English registry for lymphangioleiomyomatosis English registry of biliary atresia - contributes to the EBAR registry English registry of syndromes with abnormal vertebral segmentation English registry of Wolf-Hirschhorn syndrome English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) EUMDS: European Registry for Myelodysplastic Syndromes part of EuroLeukemiaNet (ELN) EURODSD: European disorders of sexual development registry (FINISHED) EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer European Prader-Willi syndrome database EURO-WABB: European patient-based data collection registry on rare diabetes syndromes (RDS)

National Regional Regional

Public Public Public

National Global National European National Global Regional National National National National National National National National National National National National National National National European European European European European

Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public Public

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EUROWILSON: European clinical database for Wilson disease Familial Ovarian Cancer Register (FOCR) Glasgow registry of congenital anomalies - part of BINOCAR and EUROCAT network Global FKRP (Fukutin-Related Protein) defects registry part of TREAT-NMD Alliance Great Ormond Street Hospital Congenital Melanocytic Naevus Registry Hunter Outcome Survey (HOS): patient registry I-DSD: European disorders of sexual development registry LCH: English Langerhans cell histiocytosis registry Merseyside and Cheshire registry of congenital anomalies -part of BINOCAR and EUROCAT network Myotonic dystrophy patient registry in United Kingdom part of the TREAT-NMD network National Congenital Anomaly System (NCAS) - part of BINOCAR and EUROCAT network NDSCR - National Down syndrome cytogenetic registry part of BINOCAR and EUROCAT network NHD: the national haemophilia database NHR: National Haemoglobinopathy Registry NorCAS - Northern registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional spinocerebellar ataxia registry SCAR - Scottish registry of congenital anomalies - part of BINOCAR and EUROCAT network SWCAR - South West congenital anomalies registry - part of BINOCAR and EUROCAT network The Alstrm syndrome UK (ASUK) Clinical Research Database The National Chronic Granulomatous Disease Registry The regional paediatric cardiology database UK & Ireland Fanconi Anaemia Registry UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network) UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network) UK Dyskeratosis Congenita (DC) registry UK Huntington disease registry (collaborating with the EHDN/Euro HD Registry) UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network) UK Neurofibromatosis 2 (NF2) Patient Registry UK Paediatric ITP (Immune Thrombocytopenic Purpura) Registry UK renal rare disease registry

European National Regional Global National Global Global National Regional National Regional National National National Regional Regional Regional Regional National National Regional National National National National National National National National National

Public Public Public Public Public Public Public Public Public Public Public Public Private non-for-profit Private for-profit Public Public Public Public Public Public Public Public Private non-for-profit Public Public Public Public Public Public Private for-profit

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UK Thrombotic Thrombocytopenia Purpura (UKTTP) Registry UKAITPR: United Kingdom adult idiopathic thrombocytopenic purpura registry UKCCCR: English familial ovarian cancer patient registry UKESR: United Kingdom Evans Syndrome Registry UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) Registry United Kingdom neuromyelitis optica registry WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network West Midlands registry of congenital anomalies - part of BINOCAR and EUROCAT network

National National National National National National Regional Regional

Public Public Public Public Public Public Public Public

European registries

EUROPEAN REGISTRIES (62 registries)

English label of the activity CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria CompERA-XL: International, prospective registry for the documentation of first-line and maintenance therapy in patients with pulmonary hypertension CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults Cystadane post marketing registry of patient with homocystinuria DSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland DYSCERNE's dysmorphology diagnostic system (DDS) EBAR: European Biliary Atresia Registry ECARUCA: cytogenetic and clinical database on rare chromosomal disorders EDMUS: European Database for Multiple Sclerosis and other related diseases EHDN: European Huntington's disease registry EHDN: Observational Study of the European Huntington's Disease Network Coordination DE DE AFFILIATION Public Public

DE

Public

FR DE GB DE NL FR DE PL

Private for-profit Public Public Public Public Public Public Public

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EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis EMSA-SG: central patient registry of the European multiple system atrophy network ENETS: European Neuroendocrine Tumour Registry ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood EPCOT: European prospective cohort on thrombophilia EPICURE-registry: European Epilepsy Brain patient Registry EPI-EPNET: European hepatic and erythropoietic porphyrias registry ERCUSYN: European registry on Cushing's syndrome Escort-Hu: European sickle cell disease cohort- hydroxyurea EU-CHS: European central hypoventilation syndrome registry EUMDS: European Registry for Myelodysplastic Syndromes part of EuroLeukemiaNet (ELN) EUNEFRON: registry of the European network for the study of orphan nephropathies EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA) EURECHINOREG: European registry of alveolar echinococcosis EU-RHAB: European Rhabdoid Tumor Registry eurIPFreg: European idiopathic pulmonary fibrosis registry EURIPIDES: European Registry for ICD and CRT devices in pediatrics and adults with congenital heart disease EURODSD: European disorders of sexual development registry (FINISHED) EUROFA - EFACT: European Friedreich Ataxia Registry EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer European Alport therapy registry European multicenters SCLS (systemic capillary leak syndromes) registry European patient registry for intoxication type metabolic diseases (E-IMD) European Porphyria Registry (EPR) European Prader-Willi syndrome database European prospective registry of children born to mothers affected by the antiphospholipids syndrome EUROSCA-R: European patient registry on spinocerebellar ataxias EUROTRAPS: European patient registry on TRAPS syndrome EURO-WABB: European patient-based data collection registry on rare diabetes syndromes (RDS)

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EURO-WABB: Registry for Wolfram syndrome, Alstrm syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes EUROWILSON: European clinical database for Wilson disease EuroWilson: Registry and network tio improve the management of Wilson Disease EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe) HAE-registry: European hereditary angioedema patient registry HUE-MAN patient registry on alpha mannosidosis Kids Lung Register: International register and biobank for rare lung diseases KINDLERNET: Central patient registry Kindler syndrome MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease MOLDIAG-PACA: patient registry of pancreatic cancer NCL-Registry: International neuronal ceroid lipofuscinoses patient registry NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry Register for rare myeloproliferative neoplasms RetDis Database: clinical descriptions of patients and families with inherited eye diseases Swedish and Finnish registry of CADASIL patients VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin E deficiency X-ALD: X-linked adrenoleukodystrophy database

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International registries

INTERNATIONAL REGISTRIES (43 registries)

English label of the activity CMDIR: congenital muscular dystrophy international registry CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Donors of rare blood types database (part of ENERCA) EHDN: neuroacanthocytosis patient registry EHDN: registry of juvenile Huntington's disease Enroll-HD - A Prospective Registry Study in a Global HD Cohort ESID: European registry of primary immunodeficiencies EUROFEVER: European registry for autoinflammatory diseases FARA: International Friedreich Ataxia Research Alliance registry FOS : Fabry Outcome Survey Global FKRP (Fukutin-Related Protein) defects registry - part of TREAT-NMD Alliance HOS : Hunter Outcome Survey Hunter Outcome Survey (HOS): patient registry I-DSD: European disorders of sexual development registry IFAR: International Fanconi Anemia patient Registry Infevers : The registry of Hereditary Auto-inflammatory Disorders Mutations International Dystrophic Epidermolysis Bullosa Patient Registry International Morquio A registry International Pachyonychia Congenita Research Registry (IPCRR) International pheochromocytoma and paraganglioma registry International Rare Genetic Steroid Disorders Consortium (RGSDC) registry International registry for primary hyperoxaluria International registry of bone fragility fractures in the young International Registry of congenital dyserythropoietic anemia II International Registry of Rare Bleeding Disorders (RBDD) International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura IOS : Icatibant Outcome Survey for hereditory angioedema Nephrotic syndrome registry OSTEOPETR: International registry of patients suffering from osteopetrosis Pediatric granulomatous arthritis international registry Coordination US DE GB DE GB IT DE IT US SE GB SE GB GB US FR NL US US DE US US IT IT IT IT SE NL DE BE AFFILIATION Private for-profit Public Public Public Public Public Public Public Private for-profit Private for-profit Public Private for-profit Public Public Public Public Public Private for-profit Private non-for-profit Public Private for-profit Private for-profit Public Public Private non-for-profit Private non-for-profit Private for-profit Public Public Private for-profit

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Perihilar Cholangiocarcinoma International Registry PGRx : Immune thrombocytopenic purpura (ITP) PGRx : Lupus PGRx : Myositis PGRx: Suspected rheumatoid arthritis Prospective inception cohort for juvenile Systemic Sclerosis STER: FVII deficiency treatment international registry THAOS: transthyretin amyloidosis outcomes survey The intenational Pompe registry The International Collaborative Gaucher Group (ICGG) Gaucher registry The international Fabry registry The international Mps I registry TTP: International registry on thrombotic thrombocytopenic purpura THAOS: transthyretin amyloidosis outcomes survey

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For any questions or comments, please contact us: contact.orphanet@inserm.fr

Editor-in-chief: Sgolne Aym Editor of the report: Sandra Peixoto Visual design : Cline Angin Photography : Patrice Latron / Inserm The correct form when quoting this document is: Disease Registries in Europe , Orphanet Report Series, Rare Diseases collection, January 2013 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

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