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myofibrillar myopathy 2
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Uniprot Description A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.
Disease Ontology Description A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080093
MESH:C563848
OMIM:608810
Orphanet:399058
UMLS:C1837317
MONDO:0012130
High level summary of knowledge for a disease, including descriptions and datasource references.