Details of Disease

General Information of Disease (ID: DIS6RJ7U)

Disease Name Myopathy, tubular aggregate, 2
Synonyms TAM2; myopathy, tubular aggregate, type 2; myopathy, tubular aggregate, 2; tubular aggregate myopathy caused by mutation in ORAI1; ORAI1 tubular aggregate myopathy
Definition Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.
Disease Hierarchy
DISC11WH: Tubular aggregate myopathy
DIS6RJ7U: Myopathy, tubular aggregate, 2
Disease Identifiers
MONDO ID
MONDO_0014383
UMLS CUI
C4014557
OMIM ID
615883
MedGen ID
862994

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ORAI1 TTE76YK Strong Autosomal dominant [1]
ORAI1 TTE76YK Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ORAI1 OT2VE9UU Strong Autosomal dominant [1]
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References

1 Familial myopathy with tubular aggregates associated with abnormal pupils. Neurology. 2004 Sep 28;63(6):1111-3. doi: 10.1212/01.wnl.0000138575.14424.5f.
2 ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.