KEGG   DISEASE: 無手足症
エントリ  
H00629                                                             
名称    
無手足症
概要    
Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait.
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
    LB9B  上肢及び下肢の減形成
     H00629  無手足症
病因遺伝子 
(ACHP) LMBR1 [HSA:64327] [KO:K25217]
リンク   
ICD-11: LB9B
MeSH: C536014
OMIM: 200500
文献    
PMID:517582
  著者
Marcallo FA, Pilotto RF, Freire-Maia A
  タイトル
Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects.
  雑誌
Am J Med Genet 4:287-91 (1979)
DOI:10.1002/ajmg.1320040312
文献    
PMID:7018242
  著者
Freire-Maia A
  タイトル
Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia.
  雑誌
Am J Med Genet 9:31-41 (1981)
DOI:10.1002/ajmg.1320090108
文献    
PMID:11090342 (ACHP)
  著者
Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P
  タイトル
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
  雑誌
Am J Hum Genet 68:38-45 (2001)
DOI:10.1086/316955
LinkDB    

» English version

DBGET integrated database retrieval system