Hepatic lipase deficiency

Preferred Label : Hepatic lipase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hl deficiency; Lipc deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hepatic lipase gene (LIPC, 151670.0001);

Laboratory abnormalities : Hepatic lipase deficiency; Abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins;

Prefixed ID : #614025;

Details

Origin ID

614025;

UMLS CUI

C3151466;

Automatic exact mappings (from CISMeF team)
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency [ORDO Disease]
CISMeF manual mappings
- Hepatic lipase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- hepatic lipase deficiency [Disease (Nov.)]
Genes related to phenotype
- Lipase, hepatic [OMIM gene]
HPO term(s)
- Angina pectoris [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal arcus [HPO term]
- Eruptive xanthomas [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased HDL cholesterol concentration [HPO term]
ORDO concept(s)
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatic lipase deficiency (disorder) [SNOMED CT concept]
- hepatic lipase deficiency [Disease (Nov.)]

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