KEGG   DISEASE: 非症候群性先天性ばち指
エントリ  
H01246                                                             
名称    
非症候群性先天性ばち指
概要    
Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.
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
  主に1つの体系に影響する構造的発達異常
   骨格の構造的発達異常
    指または趾の先天性奇形
     LB80  指の先天性奇形
      H01246  非症候群性先天性ばち指
病因遺伝子 
HPGD [HSA:3248] [KO:K00069]
リンク   
ICD-11: LB80.1
MeSH: D010004
OMIM: 119900
文献    
  著者
Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W
  タイトル
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
  雑誌
J Med Genet 46:14-20 (2009)
DOI:10.1136/jmg.2008.061234
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