MFM1
MCID: MYP072
MIFTS: 54
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Myopathy, Myofibrillar, 1 (MFM1)
Categories:
Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 1:
Characteristics:OMIM:56
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
variable phenotype onset usually in second or third decades autosomal dominant and autosomal recessive forms HPO:31
myopathy, myofibrillar, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course phenotypic variability 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, 1: 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.
MalaCards based summary : Myopathy, Myofibrillar, 1, also known as myofibrillar myopathy 1, is related to myopathy, spheroid body 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 Cytoskeletal Signaling and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are distal lower limb muscle weakness and progressive muscle weakness Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. OMIM : 56 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) Wikipedia : 74 Desmin-related myofibrillar myopathy, also called Helmer's myopathy, is a subgroup of the myofibrillar... more... |
Human phenotypes related to Myopathy, Myofibrillar, 1:58 31 (show all 33)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:601419UMLS symptoms related to Myopathy, Myofibrillar, 1:facial paresis MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 1:45
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MalaCards organs/tissues related to Myopathy, Myofibrillar, 1:40
Skeletal Muscle,
Heart,
Smooth Muscle
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Articles related to Myopathy, Myofibrillar, 1:(show top 50) (show all 69)
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 1:6 (show top 50) (show all 271)
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 16)
Biological processes related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Myopathy, Myofibrillar, 1 according to GeneCards Suite gene sharing:
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