KEGG   DISEASE: Kosaki 過成長症候群
エントリ  
H02872                                                             
名称    
Kosaki 過成長症候群
概要    
Kosaki overgrowth syndrome (KOGS) is a novel syndrome characterized by skeletal overgrowth. Moreover, various degrees of abnormalities of the connective tissue and central nervous system are also often present. It has been reported that gain-of-function mutations in PDGFRB cause this syndrome. PDGFRB encodes platelet-derived growth factor receptor-beta, which plays a critical role in cell growth.
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
   LD2C  過(剰)成長症候群
    H02872  Kosaki 過成長症候群
病因遺伝子 
PDGFRB [HSA:5159] [KO:K05089]
リンク   
ICD-11: LD2C
OMIM: 616592
文献    
  著者
Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K
  タイトル
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
  雑誌
Am J Med Genet A 185:999-1003 (2021)
DOI:10.1002/ajmg.a.62027
文献    
  著者
Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K
  タイトル
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
  雑誌
J Pediatr 166:483-6 (2015)
DOI:10.1016/j.jpeds.2014.10.015
文献    
  著者
Takenouchi T, Okuno H, Kosaki K
  タイトル
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
  雑誌
Am J Med Genet C Semin Med Genet 181:650-657 (2019)
DOI:10.1002/ajmg.c.31755
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