KEGG   DISEASE: シムケ免疫性骨形成不全
エントリ  
H00580                                                             
名称    
シムケ免疫性骨形成不全
概要    
Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H00580  シムケ免疫性骨形成不全
病因遺伝子 
SMARCAL1 [HSA:50485] [KO:K14440]
リンク   
ICD-11: 4A01.32
MeSH: C536629
OMIM: 242900
文献    
PMID:20301550
  著者
Baradaran-Heravi A, Morimoto M, Lucke T, Boerkoel CF
  タイトル
Schimke Immunoosseous Dysplasia
  雑誌
GeneReviews (1993)
文献    
PMID:20013129
  著者
Hunter KB, Lucke T, Spranger J, Smithson SF, Alpay H, Andre JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Frund S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF
  タイトル
Schimke immunoosseous dysplasia: defining skeletal features.
  雑誌
Eur J Pediatr 169:801-11 (2010)
DOI:10.1007/s00431-009-1115-9
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