KEGG   DISEASE: 遺伝性高フェリチン血症・白内障症候群
エントリ  
H02204                                                             
名称    
遺伝性高フェリチン血症・白内障症候群;
Bonneau-Beaumont 症候群
概要    
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  前眼部の疾患
   水晶体の疾患
    9B10  白内障
     H02204  遺伝性高フェリチン血症・白内障症候群
パスウェイ 
hsa04216  Ferroptosis
hsa04978  Mineral absorption
病因遺伝子 
FTL [HSA:2512] [KO:K13625]
リンク   
ICD-11: 9B10.2Y
MeSH: C538137
OMIM: 600886
文献    
  著者
Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R
  タイトル
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
  雑誌
Br J Haematol 115:334-40 (2001)
DOI:10.1046/j.1365-2141.2001.03116.x
文献    
  著者
Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P
  タイトル
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
  雑誌
Haematologica 98:e42-3 (2013)
DOI:10.3324/haematol.2012.077198
LinkDB    

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