KEGG   DISEASE: Parastremmatic dwarfism
エントリ  
H02183                                                             
名称    
Parastremmatic dwarfism;
歪捻肢骨異形成症
概要    
Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term "parastremmatic" is used from the Greek parastremma (distorted limb).
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
    H02183  Parastremmatic dwarfism
病因遺伝子 
TRPV4 [HSA:59341] [KO:K04973]
リンク   
ICD-11: LD24.3
MeSH: C537172
OMIM: 168400
文献    
PMID:20503319
  著者
Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
  タイトル
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
  雑誌
Am J Med Genet A 152A:1443-9 (2010)
DOI:10.1002/ajmg.a.33414
文献    
PMID:4992387
  著者
Langer LO, Petersen D, Spranger J
  タイトル
An unusual bone dysplasia: parastremmatic dwarfism.
  雑誌
Am J Roentgenol Radium Ther Nucl Med 110:550-60 (1970)
DOI:10.2214/ajr.110.3.550
LinkDB    

» English version

DBGET integrated database retrieval system