Niemann-pick disease, type c1

Preferred Label : Niemann-pick disease, type c1;

Symbol : NPC1;

CISMeF acronym : NPC; NPC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Niemann-pick disease, type C; Niemann-pick disease with cholesterol esterification block; Niemann-pick disease, subacute juvenile form; Niemann-pick disease, chronic neuronopathic form; Niemann-pick disease without sphingomyelinase deficiency; Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; NPC;

Included titles and symbols : Niemann-pick Disease, type D; Niemann-pick disease, nova scotian type;

Description : Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (601015), referred to as type C2 (607625). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (Vance, 2006). Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see 607616), and phenotypic variation within each group has also been described.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NPC intracellular cholesterol transporter 1 gene (NPC1, 607623.0001);

Laboratory abnormalities : Normal or mildly reduced sphingomyelinase activity; Low cholesterol esterification rates; Abnormal cholesterol homeostasis; Foam cells in visceral organs and CNS; Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy;

Prefixed ID : #257220;

Details

Origin ID

257220;

UMLS CUI

C3179455;

Automatic exact mappings (from CISMeF team)
- NPC intracellular cholesterol transporter 1 [HGNC gene]
- NPC1 gene [LOINC component]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease, nova scotian type [MeSH Supplementary Concept]
- Niemann-Pick disease, nova scotian type [MeSH concept]
- Niemann-Pick disease, type D [MeSH concept]
- Niemann-Pick disease, type D (disorder) [SNOMED CT concept]
- niemann-pick disease, type d [SNOMED Notion]
Broader ORDO disease(s)
- Niemann-Pick disease type C [ORDO Disease]
Currated CISMeF NLP mapping
- NPC intracellular cholesterol transporter 1 [ORDO Gene]
- Niemann-Pick Disease, Type C1 [NCIt concept]
- Niemann-Pick disease type C1 [DO Concept]
- Niemann-Pick disease, type C1 [MeSH concept]
DO Cross reference
- Niemann-Pick disease type C1 [DO Concept]
False automatic mappings
- nuclear pore [GO term]
Genes related to phenotype
- Npc intracellular cholesterol transporter 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone-marrow foam cells [HPO term]
- CNS foam cells [HPO term]
- Cataplexy [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Fatal liver failure in infancy [HPO term]
- Fetal ascites [HPO term]
- Foam cells [HPO term]
- Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Highly variable phenotype and age of onset [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Loss of speech [HPO term]
- Low cholesterol esterification rate [HPO term]
- Neonatal jaundice [HPO term]
- Neurofibrillary tangles [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Onset [HPO term]
- Poor school performance [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Psychosis [HPO term]
- Sea-blue histiocytosis [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
- Young adult onset [HPO term]
- obsolete Abnormal cholesterol homeostasis [HPO term]
ORDO concept(s)
- Niemann-Pick disease type C [ORDO Disease]
See also inter- (CISMeF)
- Niemann Pick disease type D [Disease (Nov.)]
- Niemann-Pick disease type C, adult neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, juvenile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, late infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe early infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe perinatal form [ORDO Disease]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type B [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NPC intracellular cholesterol transporter 1 [ORDO Gene]
- Niemann-Pick Disease, Type C1 [NCIt concept]
- Niemann-Pick disease type C1 [DO Concept]
- Niemann-Pick disease, type C1 [MeSH concept]
Validated automatic mappings to NTBT
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ICD-11 More detail]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease, type C [MeSH Descriptor]
- Niemann-Pick disease, type C [MeSH concept]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- niemann-pick disease, type c [SNOMED Notion]

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