Hypertriglyceridemia, transient infantile

Preferred Label : Hypertriglyceridemia, transient infantile;

Symbol : HTGTI;

CISMeF acronym : HTGTI;

Type : Phenotype, molecular basis known;

Description : Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycerol-3-phosphate dehydrogenase 1 gene (GPD1, 138420.0001);

Laboratory abnormalities : Hypertriglyceridemia, transient; Abnormal liver enzymes; Increased urinary dicarboxylic acid, transient; Increased serum cholesterol (in 3 of 10 patients); Abnormal serum lipoprotein levels (in 3 of 10 patients);

Prefixed ID : #614480;

Details

Origin ID

614480;

UMLS CUI

C3280953;

Automatic exact mappings (from CISMeF team)
- Transient infantile hypertriglyceridemia and hepatosteatosis [ORDO Disease]
Genes related to phenotype
- Glycerol-3-phosphate dehydrogenase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Infantile onset [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Transient infantile hypertriglyceridemia and hepatosteatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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