Details of Disease

General Information of Disease (ID: DISLKMBA)

Disease Name Myopathy, tubular aggregate, 1
Synonyms TAM1; tubular aggregate myopathy; myopathy, tubular aggregate; myopathy, tubular aggregate, 1; tubular aggregate myopathy caused by mutation in STIM1; STIM1 tubular aggregate myopathy
Definition Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.
Disease Hierarchy
DISC11WH: Tubular aggregate myopathy
DISLKMBA: Myopathy, tubular aggregate, 1
Disease Identifiers
MONDO ID
MONDO_0024531
UMLS CUI
C4011726
OMIM ID
160565
MedGen ID
860163

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CASQ1 OTAY8WOO Strong Genetic Variation [1]
STIM1 OT8CLQ1W Definitive Autosomal dominant [2]
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References

1 Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.