Genetic Diorders

List of genetic disorders
From Wikipedia, the free encyclopedia
The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.
The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.
Contents
[hide]
1 More common disorders
2 Full list
3 See also
4 References
More common disorders[edit]
P Point mutation, or any insertion/deletion entirely inside one gene
D Deletion of a gene or genes
C Whole chromosome extra, missing, or both (see chromosomal aberrations)
T Trinucleotide repeat disorders: gene is extended in length

Disorder
Mutation
Chromosome
22q11.2 deletion syndrome
22q
Angelman syndrome
DCP
15
Canavan disease
17p
CharcotMarieTooth disease
Color blindness
Cri du chat
Cystic fibrosis
7q
Down syndrome
21
Duchenne muscular dystrophy
Xp
Haemochromatosis
Haemophilia
Klinefelter syndrome
Neurofibromatosis
17q/22q/?
Phenylketonuria
12q
Polycystic kidney disease
16 (PKD1) or 4 (PKD2)
PraderWilli syndrome
DC
15
Sickle-cell disease
11p
TaySachs disease
15
Turner syndrome
Full list[edit]
Sortable table
Disorder name
Mutation type
Chromosome
1p36 deletion syndrome
1p36
18p deletion syndrome
18p
21-hydroxylase deficiency
45,X
see Turner syndrome
47,XX,+21
see Down syndrome
47,XXX
see triple X syndrome
47,XXY
see Klinefelter syndrome
47,XY,+21
see Down syndrome
47,XYY syndrome
6p21.3
21
21
Sortable table
Disorder name
Mutation type
Chromosome
5-ALA dehydratase-deficient porphyria

see ALA dehydratase deficiency
5-aminolaevulinic dehydratase deficiency porphyria

5p deletion syndrome
see Cri du chat
5p- syndrome
see Cri du chat
A-T
see ataxia telangiectasia
AAT
see alpha 1-antitrypsin deficiency
Absence of vas deferens

see congenital absence of the vas deferens
Absent vasa
aceruloplasminemia
5p
5p
Sortable table
Disorder name
Mutation type
Chromosome
ACG2
see achondrogenesis type II
ACH
see achondroplasia
Achondrogenesis type II
achondroplasia
Acid beta-glucosidase deficiency

see Gaucher disease type 1
Acrocephalosyndactyly (Apert)
see Apert syndrome
acrocephalosyndactyly, type V
see Pfeiffer syndrome
Acrocephaly
see Apert syndrome
Acute cerebral Gaucher's disease

acute intermittent porphyria
substitution
4p16.3
Sortable table
Disorder name
ACY2 deficiency
see Canavan disease
AD
see Alzheimer's disease
Adelaide-type craniosynostosis
see Muenke syndrome
Adenomatous Polyposis Coli

see familial adenomatous polyposis
Adenomatous Polyposis of the Colon

ADP
adenylosuccinate lyase deficiency
Adrenal gland disorders

see 21-hydroxylase deficiency
Adrenogenital syndrome
Adrenoleukodystrophy
Mutation type
Chromosome
Sortable table
Disorder name
AIP
see acute intermittent porphyria
AIS
see androgen insensitivity syndrome
AKU
see alkaptonuria
ALA dehydratase porphyria

ALA-D porphyria
ALA dehydratase deficiency
Alagille syndrome
Albinism
Alcaptonuria
see alkaptonuria
Alexander disease
alkaptonuria
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
Alkaptonuric ochronosis
see alkaptonuria
alpha 1-antitrypsin deficiency
alpha-1 proteinase inhibitor
14q32.1
alpha-1 related emphysema
14q32.1
Alpha-galactosidase A deficiency
see Fabry disease
ALS
see amyotrophic lateral sclerosis
Alstrm syndrome
ALX
see Alexander disease
Alzheimer's disease
Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
Xq22.1
Sortable table
Disorder name
Mutation type
Chromosome
Aminoacylase 2 deficiency
see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry disease
see Fabry disease
Xq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia
Anemia, sex-linked hypochromic sideroblastic
Anemia, splenic, familial

see Gaucher disease
Angelman syndrome
Angiokeratoma Corporis Diffusum

see Fabry disease
Xq22.1
Sortable table
Disorder name
Mutation type
Chromosome
Angiokeratoma diffuse
see Fabry disease
Angiomatosis retinae
see von HippelLindau disease
ANH1
APC resistance, Leiden type

see factor V Leiden thrombophilia
Apert syndrome
AR deficiency
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
Arachnodactyly
see Marfan syndrome
ARNSHL
see Nonsyndromic deafness#autosomal recessive
Arthro-ophthalmopathy, hereditary progressive

see Stickler syndrome#COL2A1
Sortable table
Disorder name
Mutation type
Chromosome
Arthrochalasis multiplex congenita

see EhlersDanlos syndrome#arthrochalasia type
AS
see Angelman syndrome
Asp deficiency
see Canavan disease
Aspa deficiency
see Canavan disease
Aspartoacylase deficiency
see Canavan disease
ataxia telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use

syndrome
see Rett syndrome
autosomal dominant juvenile ALS

see amyotrophic lateral sclerosis, type 4
Autosomal dominant opitz G/BBB syndrome

see 22q11.2 deletion syndrome
autosomal recessive form of juvenile ALS type 3
22q
Sortable table
Disorder name
Mutation type
Chromosome
see Amyotrophic lateral sclerosis#type 2
Autosomal recessive nonsyndromic hearing loss

see Nonsyndromic deafness#autosomal recessive
Autosomal Recessive Sensorineural Hearing Impairment

and Goiter
see Pendred syndrome
AxD
Ayerza syndrome
see primary pulmonary hypertension
B variant of the Hexosaminidase GM2 gangliosidosis

see Sandhoff disease
BANF
see neurofibromatosis type II
Beare-Stevenson cutis gyrata syndrome
Benign paroxysmal peritonitis

see Mediterranean fever, familial
Benjamin syndrome
10q26
Sortable table
Disorder name
Mutation type
Chromosome
beta-thalassemia
BH4 Deficiency
see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis

biotinidase deficiency
bladder cancer
Bleeding disorders
Bloch-Sulzberger syndrome
see incontinentia pigmenti
Bloom syndrome
Bone diseases
Bone marrow diseases

Bonnevie-Ullrich syndrome
see Turner syndrome
15q26.1
Sortable table
Disorder name
Mutation type
Chromosome
Bourneville disease
see tuberous sclerosis
Bourneville phakomatosis
Brain diseases
see prion disease
breast cancer
BirtHoggDub syndrome
Brittle bone disease

see osteogenesis imperfecta
Broad Thumb-Hallux syndrome

see Rubinstein-Taybi syndrome
Bronze Diabetes
see hemochromatosis
Bronzed cirrhosis
see hemochromatosis
Bulbospinal muscular atrophy, X-linked

see Spinal and bulbar muscular atrophy
17
Sortable table
Disorder name
Mutation type
Chromosome
Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial
CADASIL syndrome
17q24.3-q25.1
CGD Chronic granulomatous disorder
Campomelic dysplasia
Canavan disease
Cancer
Cancer Family syndrome

see hereditary nonpolyposis colorectal cancer
Cancer of breast
see breast cancer[1]
Cancer of the bladder

see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset

see biotinidase deficiency
Cardiomyopathy
see Noonan syndrome
Sortable table
Disorder name
Mutation type
Chromosome
Cat cry syndrome

see Cri du chat
CAVD
Caylor cardiofacial syndrome

22q
CBAVD
CEP
see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency
see Fabry disease
Cerebelloretinal Angiomatosis, familial

see von Hippel-Lindau disease
3 (p26-p25)
Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome
Cerebral autosomal dominant ateriopathy

with subcortical infarcts and leukoencephalopathy
Sortable table
Disorder name
Mutation type
Cerebral sclerosis
9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
see Rett syndrome
Cerebroside Lipidosis syndrome

see Gaucher disease
CF
D (most common);
see cystic fibrosis[1]
or substitution
CH
see congenital hypothyroidism
Charcot disease
Charcot-Marie-Tooth disease
Chondrodystrophia
see achondroplasia
Chondrodystrophy syndrome
see achondroplasia
Chondrodystrophy with sensorineural deafness

see otospondylomegaepiphyseal dysplasia
Chromosome
1(q21)
CFTR (7q31.2)
Sortable table
Disorder name
Mutation type
Chromosome
Chondrogenesis imperfecta
see achondrogenesis, type II
Choreoathetosis self-mutilation hyperuricemia syndrome

see Lesch-Nyhan syndrome
Classic Galactosemia
see galactosemia
Classical EhlersDanlos syndrome

see EhlersDanlos syndrome#classical type
Classical Phenylketonuria
see phenylketonuria
Cleft lip and palate

see Stickler syndrome
Cloverleaf skull with thanatophoric dwarfism

see Thanatophoric dysplasia#type 2
CLS
see Coffin-Lowry syndrome
CMT
see Charcot-Marie-Tooth disease
Cockayne syndrome
9 (p13)
Sortable table
Disorder name
Coffin-Lowry syndrome
collagenopathy, types II and XI
Colon Cancer, familial Nonpolyposis

Colon cancer, familial

Colorectal cancer[1]
Complete HPRT deficiency

Complete hypoxanthine-guanine
phosphoribosyltransferase deficiency
Compression neuropathy
see hereditary neuropathy with liability to pressure palsies
Congenital adrenal hyperplasia

congenital bilateral absence of vas deferens

see Congenital absence of the vas deferens
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
Congenital erythropoietic porphyria
Congenital heart disease
Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4
Congenital hypothyroidism
Congenital methemoglobinemia
see Methemoglobinemia#Congenital methaemoglobinaemia
Congenital osteosclerosis
see achondroplasia
Congenital sideroblastic anaemia
Connective tissue disease
Conotruncal anomaly face syndrome

Cooley's Anemia
see beta-thalassemia
22q
Sortable table
Disorder name
Copper storage disease

see Wilson's disease
Copper transport disease

see Menkes disease
Coproporphyria, hereditary
see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency

Cowden syndrome
CPO deficiency
CPRO deficiency
CPX deficiency
Craniofacial dysarthrosis
see Crouzon syndrome
Craniofacial Dysostosis
see Crouzon syndrome
Mutation type
Chromosome
13 (q14.3)
Sortable table
Disorder name
Mutation type
Chromosome
Cretinism
Creutzfeldt-Jakob disease
see prion disease
Cri du chat
5p
Crohn's disease, fibrostenosing
16q12
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans

see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS
see Cockayne syndrome
see Cowden syndrome
Curschmann-Batten-Steinert syndrome
see myotonic dystrophy
cutis gyrata syndrome of Beare-Stevenson

see Beare-Stevenson cutis gyrata syndrome
FGFR2 (10q25.3-q26)
Sortable table
Disorder name
Mutation type
Chromosome
D-glycerate dehydrogenase deficiency

see hyperoxaluria, primary
Dappled metaphysis syndrome

see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type

Genetic hypercalciuria
Xp11.22
see Dent's disease
DBMD
see muscular dystrophy, Duchenne and Becker types
Deafness with goiter

Deafness-retinitis pigmentosa syndrome

see Usher syndrome
Deficiency disease, Phenylalanine Hydroxylase

see phenylketonuria
12q
18p
Degenerative nerve diseases
de Grouchy syndrome 1
see De Grouchy syndrome
Sortable table
Disorder name
Mutation type
Chromosome
Dejerine-Sottas syndrome
Delta-aminolevulinate dehydratase deficiency porphyria

Dementia
demyelinogenic leukodystrophy
Dermatosparactic type of EhlersDanlos syndrome

see EhlersDanlos syndrome#dermatosparaxis type
Dermatosparaxis
developmental disabilities
dHMN
see distal hereditary motor neuropathy
DHMN-V
DHTR deficiency
Sortable table
Disorder name
Mutation type
Chromosome
Diffuse Globoid Body Sclerosis

see Krabbe disease
Di George's syndrome
Dihydrotestosterone receptor deficiency
22q
distal hereditary motor neuropathy
DM1
see Myotonic dystrophy#type 1
DM2
Down syndrome
DSMAV
see distal spinal muscular atrophy, type V
DSN
see Charcot-Marie-Tooth disease#type 4
DSS
see Charcot-Marie-Tooth disease, type 4
19
21
Sortable table
Disorder name
Mutation type
Chromosome
Duchenne/Becker muscular dystrophy

see Muscular dystrophy, Duchenne and Becker type
Dwarf, achondroplastic
see achondroplasia
Dwarf, thanatophoric
see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome

dysmyelinogenic leukodystrophy
Dystrophia myotonica
dystrophia retinae pigmentosa-dysostosis syndrome

see Usher syndrome
Early-Onset familial alzheimer disease (EOFAD)

see Alzheimer disease#type 1
19
Sortable table
Disorder name
EDS
see EhlersDanlos syndrome
EhlersDanlos syndrome
Ekman-Lobstein disease
Entrapment neuropathy
Epiloia
EPP
see erythropoietic protoporphyria
Erythroblastic anemia
Erythrohepatic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency

Erythropoietic porphyria
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
erythropoietic protoporphyria
Erythropoietic uroporphyria
Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich's ataxia
FA
see fanconi anemia
Fabry disease
Facial injuries and disorders
factor V Leiden thrombophilia
FALS
familial acoustic neuroma

familial adenomatous polyposis
familial Alzheimer disease (FAD)
Xq22.1
Sortable table
Disorder name
familial amyotrophic lateral sclerosis

familial dysautonomia
familial fat-induced hypertriglyceridemia

familial hemochromatosis
see hemochromatosis
familial LPL deficiency

familial nonpolyposis colon cancer

familial paroxysmal polyserositis

familial PCT
see porphyria cutanea tarda
familial pressure-sensitive neuropathy

Mutation type
Chromosome
Sortable table
Disorder name
familial primary pulmonary hypertension (FPPH)

Familial Turner syndrome

see Noonan syndrome
familial vascular leukoencephalopathy

FAP
FD
see familial dysautonomia
Female pseudo-Turner syndrome

see Noonan syndrome
Ferrochelatase deficiency
ferroportin disease
see Haemochromatosis#type 4
Fever
FG syndrome
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
FGFR3-associated coronal synostosis

see Muenke syndrome
Fibrinoid degeneration of astrocytes

Fibrocystic disease of the pancreas

see cystic fibrosis
FMF
Folling disease
see phenylketonuria
fra(X) syndrome
see fragile X syndrome
fragile X syndrome
Xq27.3
Xq27.3
Fragilitas ossium
FRAXA syndrome
FRDA
Xq27.3
Sortable table
Disorder name
Mutation type
Chromosome
Friedreich's ataxia
Friedreich's ataxia
FXS
G6PD deficiency
Galactokinase deficiency disease

see galactosemia
Galactose-1-phosphate uridyl-transferase deficiency

disease
see galactosemia
galactosemia
Galactosylceramidase deficiency disease

see Krabbe disease
Galactosylceramide lipidosis
see Krabbe disease
galactosylcerebrosidase deficiency
see Krabbe disease
Xq27.3
Sortable table
Disorder name
galactosylsphingosine lipidosis
see Krabbe disease
GALC deficiency
see Krabbe disease
GALT deficiency
see galactosemia
Gaucher disease
Gaucher-like disease
see pseudo-Gaucher disease
GBA deficiency
GD
see Gaucher's disease
Genetic brain disorders
genetic emphysema
genetic hemochromatosis
see hemochromatosis
Mutation type
Chromosome
Sortable table
Disorder name
Giant cell hepatitis, neonatal

see Neonatal hemochromatosis
GLA deficiency
see Fabry disease
Glioblastoma, retinal
see retinoblastoma
Glioma, retinal
see retinoblastoma
globoid cell leukodystrophy (GCL, GLD)

see Krabbe disease
globoid cell leukoencephalopathy

see Krabbe disease
Glucocerebrosidase deficiency
see Gaucher disease
Glucocerebrosidosis
see Gaucher disease
Glucosyl cerebroside lipidosis

see Gaucher disease
Glucosylceramidase deficiency
Mutation type
Chromosome
Sortable table
Disorder name
see Gaucher disease
Glucosylceramide beta-glucosidase deficiency

see Gaucher disease
Glucosylceramide lipidosis
see Gaucher disease
Glyceric aciduria
Glycine encephalopathy
see Nonketotic hyperglycinemia
Glycolic aciduria
GM2 gangliosidosis, type 1

see Tay-Sachs disease
Goiter-deafness syndrome
Graefe-Usher syndrome
see Usher syndrome
Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum
Mutation type
Chromosome
Sortable table
Disorder name
Guenther porphyria
Gunther disease
Haemochromatosis
see hemochromatosis
Hallgren syndrome
see Usher syndrome
Harlequin type ichthyosis
Hb S disease
see sickle cell anemia
HCH
see hypochondroplasia
HCP
Head and brain malformations
Hearing disorders and deafness
Mutation type
Chromosome
Sortable table
Disorder name
Hearing problems in children
HEF2A
see hemochromatosis#type 2
HEF2B
see hemochromatosis#type 2
Hematoporphyria
see porphyria
Heme synthetase deficiency

Hemochromatoses
see hemochromatosis
hemochromatosis
hemoglobin M disease
see methemoglobinemia#beta-globin type
Hemoglobin S disease
hemophilia
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
HEP
see hepatoerythropoietic porphyria
hepatic AGT deficiency

hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome

see Wilson disease
Hereditary arthro-ophthalmopathy
see Stickler syndrome
Hereditary coproporphyria
Hereditary dystopic lipidosis

see Fabry disease
Hereditary hemochromatosis (HHC)

see hemochromatosis[1]
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy

see skeletal muscle regeneration
3q12
Sortable table
Disorder name
Mutation type
Chromosome
Hereditary iron-loading anemia

Hereditary motor and sensory neuropathy

Hereditary motor neuronopathy, type V

Hereditary multiple exostoses
DNA mismatch repair

Hereditary nonpolyposis colorectal cancer
dysfunction
usually chromosomes 2
usually in MSH2 and MLH1
and 3
genes
Hereditary periodic fever syndrome

Hereditary Polyposis Coli

Hereditary pulmonary emphysema

Hereditary resistance to activated protein C

Sortable table
Disorder name
Hereditary sensory and autonomic neuropathy type III

Hereditary spastic paraplegia

see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia

Hereditary spinal sclerosis

Herrick's anemia
Heterozygous OSMED
see Weissenbacher-Zweymller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia

HexA deficiency
Hexosaminidase A deficiency
Hexosaminidase alpha-subunit deficiency (variant B)
Mutation type
Chromosome
Sortable table
Disorder name
HFE-associated hemochromatosis
see hemochromatosis
HGPS
see Progeria
Hippel-Lindau disease
HLAH
see hemochromatosis
HMN V
HMSN
HNPCC
HNPP
homocystinuria
Mutation type
Chromosome
Sortable table
Disorder name
Homogentisic acid oxidase deficiency

see alkaptonuria
Homogentisic acidura
see alkaptonuria
Homozygous porphyria cutanea tarda

see hepatoerythropoietic porphyria
HP1
HP2
HPA
see hyperphenylalaninemia
HPRT - Hypoxanthine-guanine phosphoribosyltransferase

deficiency
HSAN type III

HSAN3
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
HSN-III
Human dermatosparaxis
Huntington's disease
Hutchinson-Gilford progeria syndrome

see progeria
Hyperandrogenism, nonclassic type, due to 21hydroxylase deficiency

Hyperchylomicronemia, familial
Hyperglycinemia with ketoacidosis and leukopenia

see propionic acidemia
Hyperlipoproteinemia type I
hyperoxaluria, primary
hyperphenylalaninaemia
see hyperphenylalaninemia
4p16.3
Sortable table
Disorder name
Mutation type
Chromosome
hyperphenylalaninemia
Hypochondrodysplasia
see hypochondroplasia
Hypochondrogenesis
Hypochondroplasia
4p16.3
Hypochromic anemia
Hypocupremia, congenital
see Menkes disease
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency

IAHSP
ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies
syndrome
Idiopathic hemochromatosis
see hemochromatosis, type 3
20q11.2
Sortable table
Disorder name
Mutation type
Chromosome
Idiopathic neonatal hemochromatosis

see hemochromatosis, neonatal
Idiopathic pulmonary hypertension

Immune system disorders

see X-linked severe combined immunodeficiency
Incontinentia pigmenti
Infantile cerebral Gaucher's disease

Infantile Gaucher disease

infantile-onset ascending hereditary spastic paralysis
Infertility
inherited emphysema
Inherited human transmissible spongiform

encephalopathies
see prion disease
Xq28
Sortable table
Disorder name
Mutation type
Chromosome
inherited tendency to pressure palsies

Insley-Astley syndrome
Intermittent acute porphyria syndrome

Intestinal polyposis-cutaneous pigmentation syndrome

see PeutzJeghers syndrome
IP
see incontinentia pigmenti
Iron storage disorder

see hemochromatosis
Isodicentric 15
see isodicentric 15
Isolated deafness
see nonsyndromic deafness
Jackson-Weiss syndrome
JH
see Haemochromatosis#type 2
Inv dup
15q11-14
Sortable table
Disorder name
Mutation type
Chromosome
Joubert syndrome
JPLS
see Juvenile Primary Lateral Sclerosis
juvenile amyotrophic lateral sclerosis

Juvenile gout, choreoathetosis, mental retardation

syndrome
juvenile hyperuricemia syndrome

JWS
see Jackson-Weiss syndrome
KD
see spinal and bulbar muscular atrophy
Kennedy disease
Kennedy spinal and bulbar muscular atrophy

Kerasin histiocytosis
ALS2
Sortable table
Disorder name
see Gaucher disease
Kerasin lipoidosis
see Gaucher disease
Kerasin thesaurismosis
see Gaucher disease
ketotic glycinemia
ketotic hyperglycinemia
Kidney diseases
Kniest dysplasia
Krabbe disease
Lacunar dementia
Mutation type
Chromosome
Sortable table
Disorder name
Langer-Saldino achondrogenesis
Langer-Saldino dysplasia
Late-onset Alzheimer disease

Late-onset familial Alzheimer disease (AD2)

late-onset Krabbe disease (LOKD)

see Krabbe disease
Learning Disorders
see Learning disability
Lentiginosis, perioral
see Peutz-Jeghers syndrome
Lesch-Nyhan syndrome
Leukodystrophies
Mutation type
Chromosome
Sortable table
Disorder name
leukodystrophy with Rosenthal fibers

Leukodystrophy, spongiform
see Canavan disease
LFS
see Li-Fraumeni syndrome
Li-Fraumeni syndrome
Lipase D deficiency
LIPD deficiency
Lipidosis, cerebroside
see Gaucher disease
Lipidosis, ganglioside, infantile

Lipoid histiocytosis (kerasin type)

see Gaucher disease
lipoprotein lipase deficiency, familial
Mutation type
Chromosome
Sortable table
Disorder name
Liver diseases
see galactosemia
Lou Gehrig disease

Louis-Bar syndrome
Lynch syndrome
Lysyl-hydroxylase deficiency
see EhlersDanlos syndrome#kyphoscoliosis type
Machado-Joseph disease
see Spinocerebellar ataxia#type 3
Male breast cancer

see breast cancer
Male genital disorders
Male Turner syndrome

see Noonan syndrome
Malignant neoplasm of breast

see breast cancer
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
malignant tumor of breast

see breast cancer
Malignant tumor of urinary bladder

see bladder cancer
Mammary cancer
see breast cancer
Marfan syndrome
15
Marker X syndrome
Martin-Bell syndrome
McCuneAlbright syndrome
20 q13.2-13.3
McLeod syndrome
MEDNIK[2][3]
Mediterranean Anemia
Mediterranean fever, familial
AP1S1
Sortable table
Disorder name
Mega-epiphyseal dwarfism
Menkea syndrome
see Menkes disease
Menkes disease
Mental retardation with osteocartilaginous abnormalities

see Coffin-Lowry syndrome
Metabolic disorders
Metatropic dwarfism, type II

see Kniest dysplasia
Metatropic dysplasia type II

Methemoglobinemia#beta-globin type
methylmalonic acidemia
MFS
see Marfan syndrome
MHAM
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
see Cowden syndrome
MK
see Menkes disease
Micro syndrome
Microcephaly
2q21.3
1q31 (ASPM)
1p36
MMA
see methylmalonic acidemia
MNK
see Menkes disease
Monosomy 1p36 syndrome

see 1p36 deletion syndrome
monosomy X
see Turner syndrome
Motor neuron disease, amyotrophic lateral sclerosis

Movement disorders
Mowat-Wilson syndrome
Sortable table
Disorder name
Mucopolysaccharidosis (MPS I)
Mucoviscidosis
see cystic fibrosis
Muenke syndrome
Multi-Infarct dementia
Multiple carboxylase deficiency, late-onset

see biotinidase deficiency
Multiple hamartoma syndrome

see Cowden syndrome
Multiple neurofibromatosis
see neurofibromatosis
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica
Myotonia dystrophica
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
myotonic dystrophy
Myxedema, congenital
Nance-Insley syndrome
Nance-Sweeney chondrodysplasia
NBIA1
see pantothenate kinase-associated neurodegeneration
Neill-Dingwall syndrome
Neuroblastoma, retinal
see retinoblastoma
Neurodegeneration with brain iron accumulation type 1

Neurofibromatosis type I
17q11.2
Sortable table
Disorder name
Mutation type
Chromosome
Neurofibromatosis type II
Neurologic diseases
Neuromuscular disorders
neuronopathy, distal hereditary motor, type V

neuronopathy, distal hereditary motor, with pyramidal

features
Niemann-Pick
see NiemannPick disease
Noack syndrome
see Pfeiffer syndrome
Nonketotic hyperglycinemia
see Glycine encephalopathy
Non-neuronopathic Gaucher disease

Non-phenylketonuric hyperphenylalaninemia
see tetrahydrobiopterin deficiency
NPA, NPB, NPC1, NPC2,

Sphingomyelin
phosphodiesterase 1
SMPD1
Sortable table
Disorder name
nonsyndromic deafness
Noonan syndrome
Norrbottnian Gaucher disease

Ochronosis
see alkaptonuria
Ochronotic arthritis
see alkaptonuria
OI
Osler-Weber-Rendu disease
see Hereditary hemorrhagic telangiectasia
OSMED
osteogenesis imperfecta
Osteopsathyrosis
Mutation type
Chromosome
Sortable table
Disorder name
Osteosclerosis congenita
see achondroplasia
Oto-spondylo-megaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Oxalosis
Oxaluria, primary
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PBGD deficiency
PCC deficiency
PCT
Mutation type
Chromosome
Sortable table
Disorder name
PDM
Pendred syndrome
Periodic disease
Periodic peritonitis
Periorificial lentiginosis syndrome

Peripheral nerve disorders

Peripheral neurofibromatosis
see neurofibromatosis type I
Peroneal muscular atrophy

peroxisomal alanine:glyoxylate aminotransferase

deficiency
Peutz-Jeghers syndrome
Mutation type
Chromosome
Sortable table
Disorder name
Pfeiffer syndrome
Phenylalanine hydroxylase deficiency disease

see phenylketonuria
phenylketonuria
Pheochromocytoma
Pierre Robin syndrome with fetal chondrodysplasia

Pigmentary cirrhosis
see hemochromatosis
PJS
PKAN
PKU
see phenylketonuria
Plumboporphyria
see ALA deficiency porphyria
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
PMA
see Charcot-Marie-tooth disease
Polycystic kidney disease
polyostotic fibrous dysplasia

see McCuneAlbright syndrome
polyposis coli
polyposis, hamartomatous intestinal

polyposis, intestinal, II
polyps-and-spots syndrome
Porphobilinogen synthase deficiency

see ALA deficiency porphyria
porphyria
porphyrin disorder
see porphyria
16 (PKD1) or 4 (PKD2)
20 q13.2-13.3
Sortable table
Disorder name
PPH
PPOX deficiency
see variegate porphyria
Prader-Labhart-Willi syndrome
see Prader-Willi syndrome
Prader-Willi syndrome
presenile and senile dementia

primary hemochromatosis
see hemochromatosis
primary hyperuricemia syndrome

primary pulmonary hypertension
primary senile degenerative dementia

prion disease
Mutation type
Chromosome
Sortable table
Disorder name
procollagen type EDS VII, mutant

see EhlersDanlos syndrome#arthrochalasia type
progeria
see Hutchinson Gilford Progeria Syndrome
Progeria-like syndrome
progeroid nanism
progressive chorea, chronic hereditary (Huntington)

see Huntington's disease
progressively deforming osteogenesis imperfecta with

normal sclerae
see Osteogenesis imperfecta#Type III
PROMM
propionic acidemia
propionyl-CoA carboxylase deficiency

protein C deficiency
Mutation type
Chromosome
Sortable table
Disorder name
protein S deficiency
protoporphyria
protoporphyrinogen oxidase deficiency

proximal myotonic dystrophy

proximal myotonic myopathy

pseudo-Gaucher disease
pseudo-Ullrich-Turner syndrome
see Noonan syndrome
pseudoxanthoma elasticum
psychosine lipidosis
see Krabbe disease
pulmonary arterial hypertension

Mutation type
Chromosome
Sortable table
Disorder name
pulmonary hypertension
PWS
see Prader-Willi syndrome
PXE - pseudoxanthoma elasticum

see pseudoxanthoma elasticum
Rb
see retinoblastoma
Recklinghausen disease, nerve

Recurrent polyserositis
Retinal disorders
Retinitis pigmentosa-deafness syndrome

see Usher syndrome
Retinoblastoma
Rett syndrome
Mutation type
Chromosome
Sortable table
Disorder name
RFALS type 3
Ricker syndrome
Riley-Day syndrome
Roussy-Levy syndrome
RSTS
RTS
see Rett syndrome
RTT
see Rett syndrome
Rubinstein-Taybi syndrome
Sack-Barabas syndrome
see EhlersDanlos syndrome, vascular type
SADDAN
Mutation type
Chromosome
Sortable table
Disorder name
sarcoma family syndrome of Li and Fraumeni

sarcoma, breast, leukemia, and adrenal gland (SBLA)

syndrome
SBLA syndrome
SBMA
see spinal and bulbar musclular atrophy
SCD
Schwannoma, acoustic, bilateral

SchwartzJampel syndrome
SCIDX1
sclerosis tuberosa
SDAT
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
SED congenita
see spondyloepiphyseal dysplasia congenita
SED Strudwick
SEDc
see spondyloepiphyseal dysplasia congenita
SEMD, Strudwick type

senile dementia
severe achondroplasia with developmental delay and

acanthosis nigricans
see SADDAN
Shprintzen syndrome
sickle cell anemia
Siderius X-linked mental retardation syndrome

caused by mutations in the PHF8 gene
22q
18q
PD
Xp11.22
Sortable table
Disorder name
skeleton-skin-brain syndrome
see SADDAN
Skin pigmentation disorders
SMA
see spinal muscular atrophy
SMED, Strudwick type

SMED, type I
Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
South-African genetic porphyria

spastic paralysis, infantile onset ascending

Speech and communication disorders
sphingolipidosis, Tay-Sachs
Mutation type
Chromosome
Sortable table
Disorder name
spinal and bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V

spinal muscular atrophy, distal, with upper limb

predominance
spinocerebellar ataxia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
spondylometaepiphyseal dysplasia congenita, Strudwick

type
spondylometaphyseal dysplasia (SMD)
Mutation type
Chromosome
Sortable table
Disorder name
spondylometaphyseal dysplasia, Strudwick type

spongy degeneration of central nervous system

see Canavan disease
spongy degeneration of the brain

see Canavan disease
spongy degeneration of white matter in infancy

see Canavan disease
sporadic primary pulmonary hypertension

SSB syndrome
see SADDAN
steely hair syndrome

see Menkes disease
Steinert disease
Steinert myotonic dystrophy syndrome

Mutation type
Chromosome
Sortable table
Disorder name
Stickler syndrome
stroke
Strudwick syndrome
subacute neuronopathic Gaucher disease

Swedish genetic porphyria

Swedish porphyria
Swiss cheese cartilage dysplasia

Tay-Sachs disease
TD - thanatophoric dwarfism
see thanatophoric dysplasia
TD with straight femurs and cloverleaf skull

see thanatophoric dysplasia#Type 2
Mutation type
Chromosome
Sortable table
Disorder name
Telangiectasia, cerebello-oculocutaneous
Testicular feminization syndrome

tetrahydrobiopterin deficiency
TFM - testicular feminization syndrome

thalassemia intermedia
Thalassemia Major
thanatophoric dysplasia
Thrombophilia due to deficiency of cofactor for activated

protein C, Leiden type
Thyroid disease
Tomaculous neuropathy
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
Total HPRT deficiency

Total hypoxanthine-guanine phosphoribosyl transferase

deficiency
Transmissible dementias
see prion disease
Transmissible spongiform encephalopathies

see prion disease
Treacher Collins syndrome
5q32-q33.1
Trias fragilitis ossium

see osteogenesis imperfecta#Type I
triple X syndrome
Triplo X syndrome
Trisomy 21
see Down syndrome
Trisomy X
Sortable table
Disorder name
Mutation type
Chromosome
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
TS
see Turner syndrome
TSD
TSEs
see prion disease
tuberose sclerosis
tuberous sclerosis
Turner syndrome
Turner syndrome in female with X chromosome

see Noonan syndrome
Turner's phenotype, karyotype normal

see Noonan syndrome
Turner's syndrome
see Turner syndrome
Sortable table
Disorder name
Turner-like syndrome
see Noonan syndrome
Type 2 Gaucher disease

Type 3 Gaucher disease

UDP-galactose-4-epimerase deficiency disease

see galactosemia
UDP glucose 4-epimerase deficiency disease

see galactosemia
UDP glucose hexose-1-phosphate uridylyltransferase

deficiency
see galactosemia
Ullrich-Noonan syndrome
see Noonan syndrome
Ullrich-Turner syndrome
see Turner syndrome
Undifferentiated deafness
see nonsyndromic deafness
Mutation type
Chromosome
Sortable table
Disorder name
UPS deficiency
Urinary bladder cancer

see bladder cancer
UROD deficiency
Uroporphyrinogen decarboxylase deficiency

Uroporphyrinogen synthase deficiency

UROS deficiency
Usher syndrome
UTP hexose-1-phosphate uridylyltransferase deficiency

see galactosemia
Van Bogaert-Bertrand syndrome

see Canavan disease
Van der Hoeve syndrome

see osteogenesis imperfecta#Type I
Mutation type
Chromosome
Sortable table
Disorder name
Mutation type
Chromosome
variegate porphyria
Velocardiofacial syndrome
VHL syndrome
Vision impairment and blindness

see Alstrm syndrome
Von Bogaert-Bertrand disease

see Canavan disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease

see hemochromatosis
von Recklinghausen disease

VP
Vrolik disease
22q
Sortable table
Disorder name
Mutation type
Chromosome
Waardenburg syndrome
Warburg Sjo Fledelius Syndrome
2q21.3
see Micro syndrome
WD
see Wilson disease
Weissenbacher-Zweymller syndrome
Williams Syndrome
Wilson disease
Wilson's disease
see Wilson disease
WolfHirschhorn syndrome
4p
ERCC4
15
Wolff Periodic disease

WZS
Xeroderma pigmentosum
Sortable table
Disorder name
X-linked mental retardation and macroorchidism

X-linked primary hyperuricemia

Mutation type
Chromosome
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy

X-linked uric aciduria enzyme defect

X-SCID
XLSA
XSCID
XXX syndrome
Sortable table
Disorder name
XXXX syndrome
see 48, XXXX
XXXXX syndrome
see 49, XXXXX
XXY syndrome
XXY trisomy
XYY karyotype
see 47,XYY syndrome
XYY syndrome
see 47,XYY syndrome
YY syndrome
see 47,XYY syndrome
See also[edit]
Mutation type
Chromosome

Genetic Diorders

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Genetic Diorders

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List of genetic disorders

From Wikipedia, the free encyclopedia

1 More common disorders

More common disorders[edit]

P Point mutation, or any insertion/deletion entirely inside one gene

D Deletion of a gene or genes

C Whole chromosome extra, missing, or both (see chromosomal aberrations)

T Trinucleotide repeat disorders: gene is extended in length

22q11.2 deletion syndrome

Duchenne muscular dystrophy

Polycystic kidney disease

1p36 deletion syndrome

18p deletion syndrome

5-ALA dehydratase-deficient porphyria

5-aminolaevulinic dehydratase deficiency porphyria

Absence of vas deferens

Acid beta-glucosidase deficiency

Acute cerebral Gaucher's disease

acute intermittent porphyria

Adenomatous Polyposis Coli

Adenomatous Polyposis of the Colon

adenylosuccinate lyase deficiency

Adrenal gland disorders

ALA dehydratase porphyria

ALA dehydratase deficiency

alpha 1-antitrypsin deficiency

alpha-1 proteinase inhibitor

see alpha 1-antitrypsin deficiency

alpha-1 related emphysema

see alpha 1-antitrypsin deficiency

Amino levulinic acid dehydratase deficiency

see ALA dehydratase deficiency

amyotrophic lateral sclerosis

androgen insensitivity syndrome

Anemia, hereditary sideroblastic

see X-linked sideroblastic anemia

Anemia, sex-linked hypochromic sideroblastic

see X-linked sideroblastic anemia

Anemia, splenic, familial

Angiokeratoma Corporis Diffusum

APC resistance, Leiden type

Arthro-ophthalmopathy, hereditary progressive

Arthrochalasis multiplex congenita

Autism-Dementia-Ataxia-Loss of Purposeful Hand Use

autosomal dominant juvenile ALS

Autosomal dominant opitz G/BBB syndrome

autosomal recessive form of juvenile ALS type 3

see Amyotrophic lateral sclerosis#type 2

Autosomal recessive nonsyndromic hearing loss

Autosomal Recessive Sensorineural Hearing Impairment

B variant of the Hexosaminidase GM2 gangliosidosis

Beare-Stevenson cutis gyrata syndrome

Benign paroxysmal peritonitis

Bilateral Acoustic Neurofibromatosis

Bone marrow diseases

Brittle bone disease

Broad Thumb-Hallux syndrome

Bulbospinal muscular atrophy, X-linked

CGD Chronic granulomatous disorder

Cancer Family syndrome

Cancer of the bladder

Carboxylase Deficiency, Multiple, Late-Onset

Cat cry syndrome