MedGen

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). Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24, and FCHA3 (619232), caused by mutation in the BAAT gene (602938) on chromosome 9q31. Other disorders that may have hypercholanemia as a feature include THNS (618268), caused by mutation in the CCDC47 gene (618260) on chromosome 17q23, and NEDFHCA (621016), caused by mutation in the WDR83OS gene (618474) on chromosome 19p13. [from OMIM]

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]