Niemann-Pick Disease, Type C

Niemann-Picks sjukdom, typ C

Svensk definition

En autosomal, recessiv fettlagringssjukdom som kännetecknas av ansamling av kolesterol och sfingomyeliner i bukorganens celler och i det centrala nervsystemet. Typ C (eller C1) och D är alleliska sjukdomsformer orsakade av mutation i genen NPC1, som kodar för ett protein som förmedlar intracellulär transport av kolesterol från lysosomer. Till de kliniska tecknen hör förstorad lever och mjälte och kroniska nervsymtom. Typ D är en variant hos personer med härstamning från Nova Scotia.

Engelsk definition

An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Niemann Pick Disease, Type C — Niemann-Pick Type C Disease — Niemann Pick Type C Disease — Niemann-Pick Disease with Cholesterol Esterification Block — Niemann Pick Disease with Cholesterol Esterification Block — Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia — Niemann-Pick Disease without Sphingomyelinase Deficiency — Niemann Pick Disease without Sphingomyelinase Deficiency — Niemann-Pick Disease, Chronic Neuronopathic Form — Niemann Pick Disease, Chronic Neuronopathic Form — Niemann-Pick Disease Type C — Niemann Pick Disease Type C — Niemann-Pick's Disease Type C — Niemann Pick's Disease Type C — Niemann-Pick Disease, Type C1 — Niemann Pick Disease, Type C1 — Niemann-Pick disease, Subacute Juvenile Form — Niemann Pick disease, Subacute Juvenile Form — Niemann-Pick Disease, Type D — Niemann Pick Disease, Type D — Niemann-Pick Disease, Nova Scotian — Niemann Pick Disease, Nova Scotian — Niemann-Pick's Disease Type D — Niemann Pick's Disease Type D — Niemann-Pick Disease Type D — Niemann Pick Disease Type D — Nova Scotia Niemann-Pick Disease (Type D) — Nova Scotia Niemann Pick Disease (Type D) — Nova Scotia (Type D) Form of Niemann-Pick Disease — Niemann-Pick Type D Disease — Niemann Pick Type D Disease