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GTR Home > Conditions/Phenotypes > Infantile liver failure syndrome 1

Infantile liver failure syndrome 1

Summary

A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. [from ORDO]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPC192, ILFS1, LARS, LEURS, LEUS, LFIS, LRS, PIG44, RNTLS, cLRS, hr025Cl, LARS1
    Summary: leucyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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