KEGG   DISEASE: Primary intraosseous vascular malformation
エントリ  
H02088                                                             
名称    
Primary intraosseous vascular malformation
概要    
Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.
カテゴリ  
循環器系疾患
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
   LD23  主な特徴として血管の異常を伴う症候群
    H02088  Primary intraosseous vascular malformation
病因遺伝子 
ELMO2 [HSA:63916] [KO:K18985]
リンク   
ICD-11: LD23
OMIM: 606893
文献    
PMID:27476657
  著者
Cetinkaya A, Xiong JR, Vargel I, Kosemehmetoglu K, Canter HI, Gerdan OF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan S, Sagiroglu MS, Takahashi T, Reversade B, Akarsu NA
  タイトル
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
  雑誌
Am J Hum Genet 99:299-317 (2016)
DOI:10.1016/j.ajhg.2016.06.008
文献    
PMID:11932989
  著者
Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y
  タイトル
Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.
  雑誌
Am J Med Genet 109:22-35 (2002)
DOI:10.1002/ajmg.10282
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