Apolipoprotein C-ii deficiency

Preferred Label : Apolipoprotein C-ii deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C-II anapolipoproteinemia; Apoc2 deficiency; Hyperlipoproteinemia, type ib;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the apolipoprotein C-II gene (APOC2, 608083.0002);

Laboratory abnormalities : Hypertriglyceridemia; 'Cloudy' or 'pink' blood (lipemia); Fasting chylomicronemia; Decreased plasma apolipoprotein C-II;

Prefixed ID : #207750;

Détails

Origin ID

207750;

UMLS CUI

C1720779;

Automatic exact mappings (from CISMeF team)
- Hyperlipoproteinemia type 1 [ORDO Disease]
- familial apolipoprotein C-II deficiency [DO Concept]
Currated CISMeF NLP mapping
- Familial apolipoprotein C-II deficiency [ORDO Disease]
- apolipoprotein C-II deficiency [MeSH concept]
DO Cross reference
- familial apolipoprotein C-II deficiency [DO Concept]
Genes related to phenotype
- Apolipoprotein C-ii [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating apolipoprotein C-II concentration [HPO term]
- Eruptive xanthomas [HPO term]
- Hepatomegaly [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased circulating chylomicron concentration [HPO term]
- Lipemia retinalis [HPO term]
- Pancreatitis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Familial apolipoprotein C-II deficiency [ORDO Disease]
- Familial chylomicronemia syndrome [ORDO Disease]
- Hyperlipoproteinemia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- apolipoprotein C-II deficiency [MeSH concept]
Validated automatic mappings to NTBT
- hyperlipoproteinemia type i [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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