KEGG   DISEASE: Bamforth-Lazarus 症候群
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   甲状腺または甲状腺ホルモン系の疾患
    5A00  甲状腺機能低下症
     H01040  Bamforth-Lazarus 症候群
病因遺伝子 
FOXE1 [HSA:2304] [KO:K09398]
リンク   
ICD-11: 5A00.0Y
MeSH: C537901
OMIM: 241850
文献    
  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
文献    
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
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