Diarrhea 6
| Disorder | |
|---|---|
| OMIM #: | #614616 (Click to access OMIM database) |
| Disorder: | Diarrhea 6 |
| Also known as: | DIAR6 |
| Clinical | |
| Phenotype: | chronic diarrhea, abdominal bloating, bowel dilatation, other various gastrointestinal issues |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | GUCY2C |
| Base Change: | A>T, at nucleotide 2381 |
| Amino Acid Change: | asp 794 --> val |
| Last updated: | 2022-11-03 |
| References |
|---|
| Wolfe RM, Mohsen AW, Walsh Vockley C, Bertrand CA, Nicholls RD, Heiman P, Seibold LM, Vockley J, Ghaloul-Gonzalez L. (2021) Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach. Am J Med Genet A Jul;185(7):2046-2055. PubMed ID: 33949097 |
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