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MCID: MYP081
MIFTS: 26
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Myopathy, Myofibrillar, 6
Categories:
Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases, Neuronal diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 6:
Characteristics:Orphanet epidemiological data:55
muscular dystrophy, selcen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; OMIM:53
Inheritance:
autosomal dominant
Miscellaneous:
rapidly progressive early death may occur most mutations occur de novo onset in late childhood or early teens HPO:31
myopathy, myofibrillar, 6:
Onset and clinical course rapidly progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Muscle diseases Neuronal diseases
ICD10:
33
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OMIM
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53
Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012).
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). (612954)
MalaCards based summary : Myopathy, Myofibrillar, 6, also known as myopathy, myofibrillar, bag3-related, is related to myopathy and myofibrillar myopathy, and has symptoms including respiratory insufficiency, scoliosis and facial palsy. An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2 Associated Athanogene 3). Affiliated tissues include skeletal muscle. UniProtKB/Swiss-Prot : 71 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:
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:612954Human phenotypes related to Myopathy, Myofibrillar, 6:31 (show all 19)
UMLS symptoms related to Myopathy, Myofibrillar, 6:facial paresis |
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MalaCards organs/tissues related to Myopathy, Myofibrillar, 6:38
Skeletal Muscle
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Articles related to Myopathy, Myofibrillar, 6:
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Genes related to Myopathy, Myofibrillar, 6 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 6:71
ClinVar genetic disease variations for Myopathy, Myofibrillar, 6:6
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 6.
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