MFM1
MCID: MYP072
MIFTS: 57
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Myopathy, Myofibrillar, 1 (MFM1)
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, 1:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype onset usually in second or third decades autosomal dominant and autosomal recessive forms 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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Orphanet: 58 A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure. MalaCards based summary: Myopathy, Myofibrillar, 1, also known as desmin-related myofibrillar myopathy, is related to myopathy, myofibrillar, 6 and rigid spine muscular dystrophy 1, and has symptoms including facial paresis An important gene associated with Myopathy, Myofibrillar, 1 is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are distal lower limb muscle weakness and axial muscle weakness 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. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells. OMIM®: 57 Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). (601419) (Updated 08-Dec-2022) Disease Ontology: 11 A myofibrillar myopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. Wikipedia: 75 Desmin-related myofibrillar myopathy, is a subgroup of the myofibrillar myopathy diseases and is the... more... |
Human phenotypes related to Myopathy, Myofibrillar, 1:58 30 (show all 36)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:601419 (Updated 08-Dec-2022)UMLS symptoms related to Myopathy, Myofibrillar, 1:facial paresis GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 1:45
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Organs/tissues related to Myopathy, Myofibrillar, 1:
MalaCards :
Skeletal Muscle,
Heart,
Smooth Muscle,
Liver
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Articles related to Myopathy, Myofibrillar, 1:(show top 50) (show all 229)
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:5 (show top 50) (show all 594)
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 1:73 (show all 31)
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 1.
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Cellular components related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:
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