KEGG DISEASE: Tubular aggregate myopathy

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H02258  Tubular aggregate myopathy

Pathway

hsa04020

Calcium signaling pathway

Network

nt06528 Calcium signaling

Gene

(TAM1) STIM1 [HSA:6786] [KO:K16059]
(TAM2) ORAI1 [HSA:84876] [KO:K16056]

Other DBs

ICD-11:

8C72.Y

MeSH:

D020914

OMIM:

160565 615883

Reference

PMID:25326555 (TAM1)

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

PMID:25227914 (TAM2)

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

PMID:24591628

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

DISEASE: Stormorken syndrome

Entry

H02259                      Disease

Name

Stormorken syndrome

Description

Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum.