KEGG   DISEASE: フェクトナー症候群
エントリ  
H02053                                                             
名称    
フェクトナー症候群
  上位グループ
MYH9 異常症 [DS:H00233]
巨大血小板性血小板減少症 [DS:H01740]
概要    
Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). It is linked to mutations in MYH9, the nonmuscle myosin heavy chain.
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]
 03 血液・造血器の疾患
  凝固障害, 紫斑病またはその他の出血性または関連病状
   3B64  血小板減少症
    H02053  フェクトナー症候群
パスウェイ 
hsa04810  Regulation of actin cytoskeleton
hsa04270  Vascular smooth muscle contraction
hsa04530  Tight junction
病因遺伝子 
MYH9 [HSA:4627] [KO:K10352]
リンク   
ICD-11: 3B64.01
MeSH: C535507
OMIM: 155100
文献    
PMID:10973259
  著者
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
  タイトル
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
  雑誌
Nat Genet 26:103-5 (2000)
DOI:10.1038/79063
文献    
PMID:21210153
  著者
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
  タイトル
Renal manifestations of patients with MYH9-related disorders.
  雑誌
Pediatr Nephrol 26:549-55 (2011)
DOI:10.1007/s00467-010-1735-3
LinkDB    

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