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NIEMANN-PICK DISEASE, TYPE C2 (NPC2)

NIEMANN-PICK DISEASE, TYPE C2 (NPC2)
607625
OMIM = Online Mendelian Inheritance of Men
646
NPC intracellular cholesterol transporter 2
14q24.3
E75.2
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)