Niemann-pick disease, type c2

Preferred Label : Niemann-pick disease, type c2;

Symbol : NPC2;

CISMeF acronym : NPC2;

Type : Phenotype, molecular basis known;

Description : 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; see 257220). Since then, types E and F have also been described (see 607616).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NPC intracellular cholesterol tranporter 2 gene (NPC2, 601015.0001);

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 : #607625;

Details

Origin ID

607625;

UMLS CUI

C1843366;

Broader ORDO disease(s)
- Niemann-Pick disease type C [ORDO Disease]
Currated CISMeF NLP mapping
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick Disease, Type C2 [NCIt concept]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-Pick disease, type C2 [MeSH concept]
- Niemann-Pick disease, type C2 [MeSH Supplementary Concept]
DO Cross reference
- Niemann-Pick disease type C2 [DO Concept]
Genes related to phenotype
- Npc intracellular cholesterol transporter 2 [OMIM gene]
HPO term(s)
- Abnormal circulating cholesterol concentration [HPO term]
- 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]
- Early death [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]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Heterogeneous [HPO term]
- Highly variable phenotype and age of onset [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Loss of speech [HPO term]
- Low cholesterol esterification rate [HPO term]
- Neonatal jaundice [HPO term]
- Neurofibrillary tangles [HPO term]
- Onset [HPO term]
- Perseveration [HPO term]
- Perseverative behavior [HPO term]
- Poor school performance [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Psychosis [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Sea-blue histiocytosis [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
- obsolete Abnormal cholesterol homeostasis [HPO term]
ORDO concept(s)
- Niemann-Pick disease type C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick Disease, Type C2 [NCIt concept]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-Pick disease, type C2 [MeSH Supplementary Concept]
- Niemann-Pick disease, type C2 [MeSH concept]

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