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MCID: EMR019
MIFTS: 19
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Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases
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MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
adult onset slowly progressive two japanese patients have been reported (last curated march 2013) HPO:32
emery-dreifuss muscular dystrophy 7, autosomal dominant:
Inheritance autosomal dominant inheritance Onset and clinical course adult onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Muscle diseases Neuronal diseases Cardiovascular diseases |
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UniProtKB/Swiss-Prot
:
75
Emery-Dreifuss muscular dystrophy 7, 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.
MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant, is also known as emery-dreifuss muscular dystrophy 7, ad. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43). Related phenotypes are muscular dystrophy and neck muscle weakness OMIM : 57 Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300. (614302) |
Diseases in the Emery-Dreifuss Muscular Dystrophy family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614302Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:32 (show all 6)
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Genes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:75
ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:6
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Search
GEO
for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant.
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