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myopathy, tubular aggregate, 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.
Uniprot Description A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:160565
UMLS:C4011726
MONDO:0024531
High level summary of knowledge for a disease, including descriptions and datasource references.