NIEMANN-PICK DISEASE, TYPE C2 (NPC2)

Question 1

What is  NIEMANN-PICK DISEASE, TYPE C2 (NPC2)?

Accepted Answer

very rare (1:120000)

autosomal recessive

mutation in the NPC2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 607625

Question 3

Which enzymes are involved?

Accepted Answer

NPC intracellular cholesterol transporter 2

Disease	NIEMANN-PICK DISEASE, TYPE C2 (NPC2)
OMIM	607625 OMIM = Online Mendelian Inheritance of Men
Orphanet	646
Protein (UniProt)	NPC intracellular cholesterol transporter 2
Gene locus	14q24.3
ICD	E75.2
Summary	very rare (1:120000) autosomal recessive mutation in the NPC2 gene
Laboratory findings	Cholestan-3β,5α,6β-triol inc (plasma)
Symptoms	ataxia behavior, abnormal or bizarre, confusion blue histiocytes cataplexy developmental delay dysarthria dysphagia dystonia early death gait disturbance hepatomegaly (large liver) hypotonia jaundice liver failure onset, fetus onset, infancy onset, neonatal psychosis respiratory insufficiency seizures splenomegaly (large spleen)