SBM
MCID: MYP094
MIFTS: 42
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Myopathy, Spheroid Body (SBM)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Spheroid Body:
Characteristics:Orphanet epidemiological data:58
spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive disorder highly variable severity onset usually in third or fourth decade onset in adolescence or young adulthood has been reported HPO:31
myopathy, spheroid body:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Spheroid body myopathy is a form of myofibrillar myopathy (MFM). 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). (182920)
MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to limb-girdle muscular dystrophy and neuromuscular disease, and has symptoms including waddling gait An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Related phenotypes are myopathy and abnormality of metabolism/homeostasis Disease Ontology : 12 A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has material basis in heterozygous mutation in the myotilin gene on chromosome 5q31. KEGG : 36 Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles. UniProtKB/Swiss-Prot : 73 Spheroid body myopathy: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. |
Human phenotypes related to Myopathy, Spheroid Body:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:182920UMLS symptoms related to Myopathy, Spheroid Body:waddling gait MGI Mouse Phenotypes related to Myopathy, Spheroid Body:45
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Articles related to Myopathy, Spheroid Body:(show all 19)
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ClinVar genetic disease variations for Myopathy, Spheroid Body:6 (show all 40)
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Spheroid Body:73
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Search
GEO
for disease gene expression data for Myopathy, Spheroid Body.
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Cellular components related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:
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