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GTR Home > Conditions/Phenotypes > Hypercholanemia, familial 1

Hypercholanemia, familial 1

Synonyms
BAAT-Related Familial Hypercholanemia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). See also bile acid conjugation defect-1 (BACD1; 619232), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated. Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24. [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 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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