KEGG   DISEASE: 管状凝集体ミオパチー
エントリ  
H02258                                                             
名称    
管状凝集体ミオパチー
概要    
Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel, and STIM1 encodes a Ca2+ sensor that controls CRAC channels.
カテゴリ  
筋骨格疾患
階層分類  
ヒト疾患 [BR:jp08402]
 筋骨格疾患
  筋疾患
   H02258  管状凝集体ミオパチー
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C72  先天性ミオパチー
     H02258  管状凝集体ミオパチー
関連パスウェイ
hsa04020  Calcium signaling pathway
hsa04611  Platelet activation
病因遺伝子 
(TAM1) STIM1 [HSA:6786] [KO:K16059]
(TAM2) ORAI1 [HSA:84876] [KO:K16056]
リンク   
ICD-11: 8C72.Y
ICD-10: G71.2
MeSH: D020914
OMIM: 160565 615883
文献    
  著者
Bohm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Penisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J
  タイトル
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
  雑誌
J Med Genet 51:824-33 (2014)
DOI:10.1136/jmedgenet-2014-102623
文献    
  著者
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I
  タイトル
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels.
  雑誌
Hum Mol Genet 24:637-48 (2015)
DOI:10.1093/hmg/ddu477
文献    
  著者
Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
  タイトル
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
  雑誌
Proc Natl Acad Sci U S A 111:4197-202 (2014)
DOI:10.1073/pnas.1312520111
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