| H01040 | |
| H番号 | H01040 |
| 名称 | Bamforth-Lazarus 症候群 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | FOXE1 [HSA:2304] [KO:K09398] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A00.0Y ICD-10: E03.1 MeSH: C537901 OMIM: 241850 |
| 文献 | PMID:20453517 著者 Castanet M, Polak M タイトル Spectrum of Human Foxe1/TTF2 Mutations. 雑誌 Horm Res Paediatr 73:423-9 (2010) DOI:10.1159/000281438 PMID:2918525 著者 Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS タイトル Congenital hypothyroidism, spiky hair, and cleft palate. 雑誌 J Med Genet 26:49-51 (1989) DOI:10.1136/jmg.26.1.49 |