| H01377 | |
| H number | H01377 |
| Name | Mitchell-Riley syndrome |
| Description | Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | RFX6 [HSA:222546] [KO:K19521] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: KB60.2Y MeSH: C567570 OMIM: 615710 |
| Reference | PMID:23914949 AUTHORS Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA TITLE Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. JOURNAL Pediatr Diabetes 15:67-72 (2014) DOI:10.1111/pedi.12063 PMID:21215266 AUTHORS Pearl EJ, Jarikji Z, Horb ME TITLE Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. JOURNAL Dev Biol 351:135-45 (2011) DOI:10.1016/j.ydbio.2010.12.043 |