KEGG   DISEASE: 老人様皮膚萎縮骨形成異常症
エントリ  
H00558                                                             
名称    
老人様皮膚萎縮骨形成異常症
概要    
Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.
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
   LD2B  主な特徴として早老性外観を伴う症候群
    H00558  老人様皮膚萎縮骨形成異常症
病因遺伝子 
SCYL1BP1 [HSA:92344] [KO:K19748]
PYCR1 [HSA:5831] [KO:K00286]
リンク   
ICD-11: LD2B
MeSH: C537799
OMIM: 231070 612940
文献    
PMID:19401719
  著者
Morava E, Guillard M, Lefeber DJ, Wevers RA
  タイトル
Autosomal recessive cutis laxa syndrome revisited.
  雑誌
Eur J Hum Genet 17:1099-110 (2009)
DOI:10.1038/ejhg.2009.22
文献    
PMID:18348262
  著者
Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, Mundlos S
  タイトル
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
  雑誌
Am J Med Genet A 146A:965-76 (2008)
DOI:10.1002/ajmg.a.32143
文献    
PMID:18997784
  著者
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kuhnisch J, Budde B, Natebus M, Brancati F, Wilcox WR, Muller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nurnberg P, Wieacker P, Mundlos S
  タイトル
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
  雑誌
Nat Genet 40:1410-2 (2008)
DOI:10.1038/ng.252
文献    
PMID:21204221
  著者
Yildirim Y, Tolun A, Tuysuz B
  タイトル
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
  雑誌
Am J Med Genet A 155A:134-40 (2011)
DOI:10.1002/ajmg.a.33747
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