KEGG   DISEASE: 尾退行症候群
エントリ  
H00979                      Disease                                
名称    
尾退行症候群;
前方仙骨部髄膜瘤
概要    
Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well as anorectal and genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal mesoderm and are usually sporadic.
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
    H00979  尾退行症候群
パスウェイ 
hsa04310  Wnt signaling pathway
病因遺伝子 
VANGL1 [HSA:81839] [KO:K04510]
コメント  
Spina bifida, a neural tube defect, is described in H00262.
リンク   
ICD-11: LD2F.1
MeSH: C537221
OMIM: 600145
文献    
  著者
Kylat RI, Bader M
  タイトル
Caudal Regression Syndrome.
  雑誌
Children (Basel) 7:211 (2020)
DOI:10.3390/children7110211
文献    
  著者
Rougemont AL, Bouron-Dal Soglio D, Desilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC
  タイトル
Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis.
  雑誌
Am J Med Genet A 146A:1470-6 (2008)
DOI:10.1002/ajmg.a.32081
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