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MFM2
MCID: MYP082
MIFTS: 40
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Myopathy, Myofibrillar, 2 (MFM2)
Categories:
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, 2:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset slowly progressive clinical variability two patients without cardiomyopathy or cataracts have been reported
Inheritance:
autosomal dominant HPO:31
myopathy, myofibrillar, 2:
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 Respiratory diseases Smell/Taste diseases Oral diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003).
A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869.
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (608810) (Updated 05-Apr-2021)
MalaCards based summary : Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to early-onset lamellar cataract and limb-girdle muscular dystrophy type 1a. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B). Related phenotypes are dysphonia and dysphagia Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. UniProtKB/Swiss-Prot : 72 Myopathy, myofibrillar, 2: 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. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. |
Human phenotypes related to Myopathy, Myofibrillar, 2:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:608810 (Updated 05-Apr-2021) |
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Articles related to Myopathy, Myofibrillar, 2:(show all 14)
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Genes related to Myopathy, Myofibrillar, 2 (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:6 (show all 17)
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:72
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 2.
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Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:
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