LGMDR7
MCID: MSC174
MIFTS: 42
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMDR7)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:
Characteristics:Orphanet epidemiological data:58
telethonin-related limb-girdle muscular dystrophy r7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years) genetic heterogeneity, see lgmd2a allelic disorder to dilated cardiomyopathy 1n (cmd1n, ) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. Visit the Orphanet disease page for more resources.
MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7, also known as lgmd2g, is related to autosomal recessive limb-girdle muscular dystrophy type 2g and muscular dystrophy, duchenne type. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine kinase and rimmed vacuoles UniProtKB/Swiss-Prot : 73 Muscular dystrophy, limb-girdle, autosomal recessive 7: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. |
Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:31 (show all 16)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:601954MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:45
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MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:40
Skeletal Muscle
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Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:(show all 27)
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ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:6 (show all 28)
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Search
GEO
for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7.
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Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:
Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:
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