KEGG   DISEASE: 尾方重複異常
エントリ  
H00934                                                             
名称    
尾方重複異常;
尾部重複奇形
概要    
Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00934  尾方重複異常
パスウェイ 
hsa04390  Hippo signaling pathway
hsa04310  Wnt signaling pathway
病因遺伝子 
AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157]
リンク   
ICD-11: LD2F.1Y
MeSH: C564315
OMIM: 607864
文献    
  著者
Rattan KN, Budhiraja S, Pandit SK, Solanki RS, Sen R, Sen J
  タイトル
Caudal duplication--a case report.
  雑誌
Pediatr Surg Int 16:445-6 (2000)
DOI:10.1007/s003839900313
文献    
PMID:9502040
  著者
La Torre R, Fusaro P, Anceschi MM, Montanino-Oliva M, Modesto S, Cosmi EV
  タイトル
Unusual case of caudal duplication (dipygus).
  雑誌
文献    
  著者
Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ
  タイトル
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
  雑誌
Am J Med Genet 112:390-3 (2002)
DOI:10.1002/ajmg.10594
文献    
  著者
Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S
  タイトル
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.
  雑誌
Am J Hum Genet 79:155-62 (2006)
DOI:10.1086/505031
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