Myopathy, Myofibrillar, 3 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases
Aliases & Descriptions for Myopathy, Myofibrillar, 3:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases, Cardiovascular diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:68 Myopathy, myofibrillar, 3: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.
MalaCards based summary: Myopathy, Myofibrillar, 3, also known as myotilinopathy, is related to myopathy, myofibrillar, 1 and myofibrillar myopathy, and has symptoms including polyneuropathy, areflexia and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle.
OMIM:50 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic... (609200) more...
HPO human phenotypes related to Myopathy, Myofibrillar, 3:(show all 13)
MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:34
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:68
Clinvar genetic disease variations for Myopathy, Myofibrillar, 3:5
Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.
Cellular components related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet