KEGG   DISEASE: Dyggve-Melchior-Clausen 病
エントリ  
H00757                                                             
名称    
Dyggve-Melchior-Clausen 病
概要    
Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:H02497]
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H00757  Dyggve-Melchior-Clausen 病
病因遺伝子 
DYM [HSA:54808] [KO:K23951]
リンク   
ICD-11: LD24.3
ICD-10: Q87.1
MeSH: C535726
OMIM: 223800
文献    
PMID:15464420
  著者
Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V
  タイトル
Recent advances in Dyggve-Melchior-Clausen syndrome.
  雑誌
Mol Genet Metab 83:51-9 (2004)
DOI:10.1016/j.ymgme.2004.08.012
文献    
PMID:16470731
  著者
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
  タイトル
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
  雑誌
Am J Med Genet A 140:421-6 (2006)
DOI:10.1002/ajmg.a.31090
文献    
PMID:12499951
  著者
Burns C, Powell BR, Hsia YE, Reinker K
  タイトル
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
  雑誌
J Pediatr Orthop 23:88-93 (2003)

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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