| H01040 | |
| H number | H01040 |
| Name | Bamforth-Lazarus syndrome |
| Description | Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | FOXE1 [HSA:2304] [KO:K09398] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A00.0Y ICD-10: E03.1 MeSH: C537901 OMIM: 241850 |
| Reference | PMID:20453517 AUTHORS Castanet M, Polak M TITLE Spectrum of Human Foxe1/TTF2 Mutations. JOURNAL Horm Res Paediatr 73:423-9 (2010) DOI:10.1159/000281438 PMID:2918525 AUTHORS Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS TITLE Congenital hypothyroidism, spiky hair, and cleft palate. JOURNAL J Med Genet 26:49-51 (1989) DOI:10.1136/jmg.26.1.49 |