| NIEMANN-PICK DISEASE TYPE C1 (NPC1) | |
|
257220
OMIM = Online Mendelian Inheritance of Men | |
|
646 | |
| Niemann-Pick C1 protein | |
| rare (~ 1:100000) autosomal recessive mutation in the NPC1 gene age at presentation varies from the perinatal peroid to late adulthood cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Polo G et al. 2016] | |
| Laboratory findings | 7-ketocholesterol inc (plasma) Chitotriosidase inc (plasma) Cholestan-3β,5α,6β-triol inc (plasma) Foam cells, bone marrow (bone marrow) Sphingomyelin inc (liver) Sphingomyelin inc (spleen) Thrombocytes, Platelets dec (blood) |
| Symptoms | hepatomegaly (large liver) jaundice splenomegaly (large spleen) thrombopenia, thrombocytopenia abnormal movement ascites ataxia behavior, abnormal or bizarre, confusion blue histiocytes cataplexy cholestasis cognitive impairment conjunctival biopsy, abnormal dementia dysarthria dysphagia dystonia early death gait disturbance hearing defect, deafness hydrops fetalis hypotonia learning disability liver failure MRI, brain, abnormalities [-] onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal ophthalmoplegia progressive neurologic defect psychosis pulmonary alveolar proteinosis respiratory distress seizures spastic diplegia/quadriplegia/tetraplegia speech development, delayed, abnormal |