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GTR Home > Conditions/Phenotypes > Infantile liver failure syndrome 3

Infantile liver failure syndrome 3

Summary

Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by Cousin et al., 2019). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ILFS3, RINT-1, RINT1
    Summary: RAD50 interactor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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