Hirschsprung disease 2
| Disorder | |
|---|---|
| OMIM #: | #600155 (Click to access OMIM database) |
| Disorder: | Hirschsprung disease 2 |
| Also known as: | HSCR2 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 WAARDENBURG SYNDROME, TYPE 4A |
| Clinical | |
| Phenotype: | aganglionosis in distal colon causing functional obstruction, Hirschsprung disease, bowel obstruction, constipation, vomiting |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| ReferencesPuffenberger EG, Kompanek AJ, Kauffman ER, Mascari M, Ladda R, Chakravarti A. (1992) Pedigree analysis of a large Mennonite kindred segregating Hirschsprung disease. Am J Med Genet A 51:106. 1 Old Order Mennonite |
|
| Gene: | EDNRB |
| Base Change: | G>T, at nucleotide 828 |
| Amino Acid Change: | trp 276 --> cys |
| Last updated: | 2022-11-05 |
| References |
|---|
| Puffenberger EF, Hosoda K, Washington S, Nakao K, deWit D, Yanagisawa M, and Chakravarti A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79(7): 1257-1266. PubMed ID: 8001158 |
| Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al. (1994) Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet Aug;3(8):1217-25. PubMed ID: 7987295 |
| Puffenberger EG, Kompanek AJ, Kauffman ER, Mascari M, Ladda R, Chakravarti A. (1992) Pedigree analysis of a large Mennonite kindred segregating Hirschsprung disease. Am J Med Genet A 51:106. |
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