MFM3
MCID: MYP078
MIFTS: 50
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Myopathy, Myofibrillar, 3 (MFM3)
Categories:
Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 3:
Characteristics:Orphanet epidemiological data:58
autosomal dominant limb-girdle muscular dystrophy type 1a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive disorder adult onset (mean 60 years) limb-girdle muscular dystrophy 1a (lgmd1a, ) is an allelic disorder with overlapping clinical features HPO:31
myopathy, myofibrillar, 3:
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:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Myopathy, myofibrillar, 3: 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. MFM3 is 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 autosomal dominant distal myopathy and centronuclear myopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are peripheral neuropathy and hyporeflexia Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the TTID gene on chromosome 5q31. OMIM : 56 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (609200) |
Human phenotypes related to Myopathy, Myofibrillar, 3:58 31 (show all 44)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609200MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:45
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MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:40
Skeletal Muscle
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Articles related to Myopathy, Myofibrillar, 3:(show all 49)
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:6 (show top 50) (show all 90)
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:73
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 3.
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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:(show all 27)
Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:(show all 11)
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