MFM3
MCID: MYP078
MIFTS: 54
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Myopathy, Myofibrillar, 3 (MFM3)
Categories:
Bone diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 3:
Characteristics:Inheritance:
Myopathy, Myofibrillar, 3:
Autosomal dominant 57
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:
Autosomal dominant 58
Prevelance:
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:
<1/1000000 (Worldwide) 58
Age Of Onset:
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:
Adult,Elderly 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive disorder adult onset (mean 60 years) limb-girdle muscular dystrophy 1a (lgmd1a, ) is an allelic disorder with overlapping clinical features HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases Cardiovascular diseases Smell/Taste diseases Oral diseases
ICD10:
31
32
Orphanet: 58
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UniProtKB/Swiss-Prot: 73 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 limb-girdle muscular dystrophy type 1a and nonaka 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 pathway. Affiliated tissues include skeletal muscle, heart and myeloid, and related phenotypes are peripheral neuropathy and hyporeflexia Orphanet 58 Autosomal dominant limb-girdle muscular dystrophy type 1a: A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Distal myotilinopathy: A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. OMIM®: 57 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) (Updated 08-Dec-2022) Disease Ontology: 11 A myofibrillar myopathy that has material basis in heterozygous mutation in the TTID gene on chromosome 5q31. |
Human phenotypes related to Myopathy, Myofibrillar, 3:58 30 (show all 44)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:609200 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:45
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Organs/tissues related to Myopathy, Myofibrillar, 3:
MalaCards :
Skeletal Muscle,
Heart,
Myeloid,
Bone
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Articles related to Myopathy, Myofibrillar, 3:(show top 50) (show all 89)
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:5 (show top 50) (show all 205)
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:(show all 15)
Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:(show all 11)
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