Hypercholanemia, familial
| Disorder | |
|---|---|
| OMIM #: | #607748 (Click to access OMIM database) |
| Disorder: | Hypercholanemia, familial |
| Also known as: | FHCA Vitamin K deficiency |
| Clinical | |
| Phenotype: | failure to thrive, growth deficiency, elevated bilirubin, pruritis, steatorrhoea, elevated serum bile acid concentrations, anemia, coagulopathy, rickets |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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: | 2022-11-05 |
| 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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