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EDMD2
MCID: EMR018
MIFTS: 54
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Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (EDMD2)
Categories:
Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:60
autosomal dominant limb-girdle muscular dystrophy type 1b
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adolescent,Childhood; Age of death: adult;
autosomal dominant emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable severity slowly progressive onset of muscle weakness in early childhood, usually before age 10 years onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement high frequency of de novo mutations some patients may have isolated cardiac involvement limb-girdle muscular dystrophy 1b (lgmd1b, ) is an allelic disorder with an overlapping phenotype see also x-linked edmd HPO:33
emery-dreifuss muscular dystrophy 2, autosomal dominant:
Onset and clinical course variable expressivity slow progression Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases Bone diseases
ICD10:
34
35
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OMIM
:
58
EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989).
For a discussion of genetic heterogeneity of EDMD, see 310300. (181350)
MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant, also known as edmd2, is related to autosomal dominant limb-girdle muscular dystrophy and dilated cardiomyopathy. An important gene associated with Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include skeletal muscle and heart, and related phenotypes are pectus excavatum and joint stiffness Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of LMNA on chromosome 1q22. UniProtKB/Swiss-Prot : 76 Emery-Dreifuss muscular dystrophy 2, autosomal dominant: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. |
Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:60 33 (show top 50) (show all 68)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:181350MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:47
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Genetic tests related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:42
Skeletal Muscle,
Heart
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Articles related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:(show all 21)
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Genes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (4 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:76 (show top 50) (show all 61)
ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:6 (show top 50) (show all 64)
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Search
GEO
for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant.
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Pathways related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:
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Cellular components related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:
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