KEGG   DISEASE: 悪性線維性組織球腫を伴う骨幹部骨髄腔狭窄症
エントリ  
H02735                                                             
名称    
悪性線維性組織球腫を伴う骨幹部骨髄腔狭窄症
概要    
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in the salvage pathway for adenine and methionine in all tissues.
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
    H02735  悪性線維性組織球腫を伴う骨幹部骨髄腔狭窄症
病因遺伝子 
MTAP [HSA:4507] [KO:K00772]
リンク   
ICD-11: LD24.1Y
MeSH: C536169
OMIM: 112250
文献    
PMID:22464254
  著者
Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA
  タイトル
Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.
  雑誌
Am J Hum Genet 90:614-27 (2012)
DOI:10.1016/j.ajhg.2012.02.024
文献    
PMID:10053015
  著者
Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, Gelb BD
  タイトル
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.
  雑誌
Am J Hum Genet 64:801-7 (1999)
DOI:10.1086/302297
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