MFM5
MCID: MYP079
MIFTS: 46
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Myopathy, Myofibrillar, 5 (MFM5)
Categories:
Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 5:
Characteristics:Orphanet epidemiological data:58
muscle filaminopathy
Inheritance: Autosomal dominant; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive adult onset (37 to 57 years) HPO:31
myopathy, myofibrillar, 5:
Inheritance autosomal dominant inheritance Onset and clinical course adult onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Myopathy, myofibrillar, 5: 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. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction.
MalaCards based summary : Myopathy, Myofibrillar, 5, also known as myofibrillar myopathy, filamin c-related, is related to myofibrillar myopathy and myopathy, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 5 is FLNC (Filamin C), and among its related pathways/superpathways are Salmonella infection (KEGG) and Proteoglycans in cancer. Related phenotypes are elevated serum creatine kinase and respiratory insufficiency Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the FLNC gene on chromosome 7q32. |
Human phenotypes related to Myopathy, Myofibrillar, 5:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609524UMLS symptoms related to Myopathy, Myofibrillar, 5:waddling gait MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 5:45
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Articles related to Myopathy, Myofibrillar, 5:(show all 27)
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 5:6 (show top 50) (show all 1165)
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Cellular components related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:
Biological processes related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:
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