KEGG   DISEASE: 眼歯指異形成症
エントリ  
H00449                                                             
名称    
眼歯指異形成症
概要    
Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene.
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
    H00449  眼歯指異形成症
パスウェイ 
hsa04540  Gap junction
病因遺伝子 
GJA1 [HSA:2697] [KO:K07372]
リンク   
ICD-11: LD27.0Y
MeSH: C563160
OMIM: 164200 257850
文献    
  著者
Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ
  タイトル
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
  雑誌
Ophthalmic Genet 25:227-36 (2004)
DOI:10.1080/13816810490513424
文献    
  著者
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
  タイトル
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
  雑誌
Hum Mutat 30:724-33 (2009)
DOI:10.1002/humu.20958
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