Myopathy, Myofibrillar, 6 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases
Aliases & Descriptions for Myopathy, Myofibrillar, 6:
Orphanet epidemiological data:53
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:51 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 myopathy, myofibrillar, bag3-related, is related to myopathy and myofibrillar myopathy, and has symptoms including hyporeflexia, nasal speech and hypertrophic cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3).
UniProtKB/Swiss-Prot:69 Myopathy, myofibrillar, 6: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients.
Diseases in the Myofibrillar Myopathy family:
Diseases related to Myopathy, Myofibrillar, 6 via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Myopathy, Myofibrillar, 6:63 (show all 19)
UMLS symptoms related to Myopathy, Myofibrillar, 6:facial paresis
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:69
Clinvar genetic disease variations for Myopathy, Myofibrillar, 6:5
Search GEO for disease gene expression data for Myopathy, Myofibrillar, 6.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet