KEGG   DISEASE: ADULT 症候群
エントリ  
H00641                                                             
名称    
ADULT 症候群
概要    
ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H00641  ADULT 症候群
病因遺伝子 
TP63 (gain of function) [HSA:8626] [KO:K10149]
コメント  
For EEC syndrome and EEC-related limb-mammary syndrome, see H00638 and H00640 respectively.
リンク   
ICD-11: LD27.0Y
MeSH: C538052
OMIM: 103285
文献    
  著者
Brunner HG, Hamel BC, Van Bokhoven H
  タイトル
The p63 gene in EEC and other syndromes.
  雑誌
J Med Genet 39:377-81 (2002)
DOI:10.1136/jmg.39.6.377
文献    
  著者
Brunner HG, Hamel BC, Bokhoven Hv H
  タイトル
P63 gene mutations and human developmental syndromes.
  雑誌
Am J Med Genet 112:284-90 (2002)
DOI:10.1002/ajmg.10778
文献    
  著者
Priolo M
  タイトル
Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
  雑誌
Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804
文献    
  著者
Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T
  タイトル
TP63 gene mutation in ADULT syndrome.
  雑誌
Eur J Hum Genet 9:642-5 (2001)
DOI:10.1038/sj.ejhg.5200676
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