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Disease Report for: Familial hypercholanemia

Name Class
Familial hypercholanemiaGene_locushuman-BAAT
human-EPHX1
Allelic_variantM76V_human-BAAT
4kbup_human-EPHX1
IVS1_human-EPHX1
Alternative_nameFHCA
Comment(from OMIM) Familial hypercholanemia (60748) is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Carlton et al. (2003) studied this disorder in 17 individuals in 12 families of Lancaster County Old Order Amish descent. In 6 families, affected individuals were homozygous for a missense mutation in the gene encoding tight junction protein-2 (TJP2)(not an a/b hydrolase). In 2 families, affected individuals were homozygous for an M76V mutation in BAAT. In 2 families, the affected individuals were homozygous for the TJP2 missense mutation and heterozygous for the BAAT mutation, and in 1 family affected individuals were homozygous for the BAAT mutation and heterozygous for the TJP2 mutation. Carlton et al. (2003) postulated oligogenic inheritance of familial hypercholanemia. In a patient with hypercholanemia, Zhu et al. (2003) identified compound heterozygosity for 2 mutations in the EPHX1 gene, which resulted in a significant decrease in EPHX1 promoter activity.
OMIM602938
607748
MutationM76V_human-BAAT
4kbup_human-EPHX1
IVS1_human-EPHX1
Paper (5)

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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