Myopathy, Myofibrillar, 6 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases
Aliases & Descriptions for Myopathy, Myofibrillar, 6:
Orphanet epidemiological data:52
muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases, Cardiovascular diseases
Rare neurological diseases
OMIM:50 Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first... (612954) more...
MalaCards based summary: Myopathy, Myofibrillar, 6, also known as bag3-related myofibrillar myopathy, is related to myopathy and myofibrillar myopathy, and has symptoms including facial paresis, hyporeflexia and nasal speech. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).
UniProtKB/Swiss-Prot:68 Myopathy, myofibrillar, 6: A neuromuscular disorder that results in early-onset, severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. At ultrastructural level, muscle fibers display structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material.
Diseases in the Myofibrillar Myopathy family:
Diseases related to Myopathy, Myofibrillar, 6 via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Myopathy, Myofibrillar, 6:(show all 19)
UMLS symptoms related to Myopathy, Myofibrillar, 6:facial paresis
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:68
Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:5
Search GEO for disease gene expression data for Myopathy, Myofibrillar, 6.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet