KEGG   DISEASE: Tubular aggregate myopathy
Entry
H02258                      Disease                                
Name
Tubular aggregate myopathy
Description
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.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H02258  Tubular aggregate myopathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H02258  Tubular aggregate myopathy
Related
pathway
hsa04020  Calcium signaling pathway
hsa04611  Platelet activation
Gene
(TAM1) STIM1 [HSA:6786] [KO:K16059]
(TAM2) ORAI1 [HSA:84876] [KO:K16056]
Other DBs
ICD-11: 8C72.Y
ICD-10: G71.2
MeSH: D020914
OMIM: 160565 615883
Reference
  Authors
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
  Title
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
  Journal
J Med Genet 51:824-33 (2014)
DOI:10.1136/jmedgenet-2014-102623
Reference
  Authors
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
  Title
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels.
  Journal
Hum Mol Genet 24:637-48 (2015)
DOI:10.1093/hmg/ddu477
Reference
  Authors
Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
  Title
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
  Journal
Proc Natl Acad Sci U S A 111:4197-202 (2014)
DOI:10.1073/pnas.1312520111
LinkDB

» Japanese version

DBGET integrated database retrieval system