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GTR Home > Conditions/Phenotypes > Transient infantile hypertriglyceridemia and hepatosteatosis

Transient infantile hypertriglyceridemia and hepatosteatosis

Synonyms
Hypertriglyceridemia, transient infantile
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Transient infantile hypertriglyceridemia (HTGTI) 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). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPD-C, GPDH-C, HTGTI, GPD1
    Summary: glycerol-3-phosphate dehydrogenase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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