KEGG   DISEASE: 先天的易骨折性を伴う脊髄性筋萎縮症
エントリ  
H02238                                                             
名称    
先天的易骨折性を伴う脊髄性筋萎縮症
概要    
Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動ニューロン疾患または関連症
   8B61  脊髄性筋萎縮症
    H02238  先天的易骨折性を伴う脊髄性筋萎縮症
病因遺伝子 
(SMABF1) TRIP4 [HSA:9325] [KO:K23398]
(SMABF2) ASCC1 [HSA:51008] [KO:K18666]
リンク   
ICD-11: 8B61.Y
MeSH: C564805
OMIM: 616866 616867
文献    
PMID:26924529
  著者
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hubner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M
  タイトル
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
  雑誌
Am J Hum Genet 98:473-489 (2016)
DOI:10.1016/j.ajhg.2016.01.006
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