Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hypercholanemia, familial

Disorder
OMIM #: #607748  (Click to access OMIM database)
Disorder: Hypercholanemia, familial 
Also known as: FHCA 
Clinical
Phenotype: pruritis, steatorrhoea, elevated serum bile acid concentrations 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TJP2
Base Change: T>C, at nucleotide 143
Amino Acid Change: val 48 --> ala
2   Amish  
Gene: BAAT
Base Change: A>G, at nucleotide 226
Amino Acid Change: met 76 --> val
Last updated: 2007-06-29 

References
Carlton VEH, Harris BZ, Puffenberg EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. (2003) Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nature Genet. 34:91-96.
PubMed ID: 12704386 

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