| H00908 | |
| H number | H00908 |
| Name | Mowat-Wilson syndrome |
| Description | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | ZEB2 [HSA:9839] [KO:K23560] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.0 MeSH: C536990 OMIM: 235730 |
| Reference | PMID:17958891 AUTHORS Garavelli L, Mainardi PC TITLE Mowat-Wilson syndrome. JOURNAL Orphanet J Rare Dis 2:42 (2007) DOI:10.1186/1750-1172-2-42 PMID:21336163 AUTHORS Cui S, Erlichman J, Russo P, Haber BA, Matthews RP TITLE Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development. JOURNAL J Pediatr Gastroenterol Nutr 52:339-44 (2011) DOI:10.1097/MPG.0b013e3181ff2e5b |