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GTR Home > Conditions/Phenotypes > Cholestasis, progressive familial intrahepatic, 4

Cholestasis, progressive familial intrahepatic, 4

Summary

Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. [from SNOMEDCT_US]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C9DUPq21.11, DFNA51, DUP9q21.11, FHCA1, PFIC4, X104, ZO2, TJP2
    Summary: tight junction protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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