CHROMOSOME 4

Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans.

Chromosome 4 is made up of over 186 million base pairs, the building blocks of
DNA.
Chromosome 4 represents around 6% to 6.5% of the DNA in the human genome.
Genetic research estimates that chromosome 4 contains around 1000 to 1100
genes.

HUNTINGTON DISEASE

Huntingtin
Huntington's disease (HD) is a neurodegenerative genetic disorder that affects
muscle coordination and leads to cognitive decline and behavioral symptoms.
o Behavioral disturbances
o Hallucinations
o Irritability
o Moodiness
o Restlessness or fidgeting
o Paranoia
o Psychosis

ACHONDROPLASIA

Fibroblast growth factor receptor 3

It is a common cause of dwarfism.
It occurs as a sporadic mutation in approximately 80% of cases or may be
inherited as an autosomal dominant genetic disorder.
o Improportionate dwarfism
o Shortening of the proximal limbs (called rhizomelic shortening)
o Short fingers and toes
o Large head with prominent forehead

ELLIS-VAN-CREVELD

Ellisvan Creveld syndrome is caused by a mutation in the EVC gene

It is a rare genetic disorder of the skeletal dysplasia type.
o Post-axial polydactyly
o Congenital heart defects
 o Teeth present at birth
o Fingernail dysplasia
o Short-limbed dwarfism
o Short ribs
o Malformation of the wrist bones

NARCOLEPSEY

NRCLP gene
Narcolepsy also known as hypnolepsy, is a chronic neurological disorder caused
by autoimmune destruction of hypocretin (arousal, wakefulness, and appetite)-
producing neurons.
o Excessive daytime sleepiness (EDS)
o Cataplexy
o Hallucinations
o Sleep paralysis
PARKINSONS DISEASE

Alpha-synuclein (SNCA)
Parkinson's disease is a degenerative disorder of the central nervous system.
o Tremor of the hands, arms, legs, jaw and face
o Bradykinesia or slowness of movement
o Rigidity or stiffness of the limbs and trunk
o Postural instability or impaired balance and coordination

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

FOP
Fibrodysplasia ossificans progressiva (FOP) aka Stone Man Syndrome is an
extremely rare disease of the connective tissue.
A mutation of the body's repair mechanism causes fibrous tissue (including
muscle, tendon, and ligament) to be ossified spontaneously or when damaged.