KEGG   DISEASE: Ruijs-Aalfs 症候群
エントリ  
H02323                                                             
名称    
Ruijs-Aalfs 症候群
概要    
Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease.
カテゴリ  
内分泌代謝疾患
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
   LD2B  主な特徴として早老性外観を伴う症候群
    H02323  Ruijs-Aalfs 症候群
病因遺伝子 
SPRTN [HSA:83932] [KO:K24051]
リンク   
ICD-11: LD2B
OMIM: 616200
文献    
  著者
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Hogel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmuller J, Nurnberg G, Nurnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C
  タイトル
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
  雑誌
Nat Genet 46:1239-44 (2014)
DOI:10.1038/ng.3103
文献    
  著者
Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM
  タイトル
Atypical progeroid syndrome: an unknown helicase gene defect?
  雑誌
Am J Med Genet A 116A:295-9 (2003)
DOI:10.1002/ajmg.a.10730
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