EDMD7
MCID: EMR019
MIFTS: 33
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Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (EDMD7)
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 7, Autosomal Dominant:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
adult onset slowly progressive two japanese patients have been reported (last curated march 2013)
Inheritance:
autosomal dominant HPO:31
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 Bone diseases |
UniProtKB/Swiss-Prot :
73
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, also known as emery-dreifuss muscular dystrophy 7, ad, is related to emerinopathy and arrhythmogenic right ventricular dysplasia, familial, 5. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Related phenotypes are muscular dystrophy and proximal amyotrophy Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1. 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) (Updated 05-Mar-2021) |
Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614302 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:46
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Articles related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:
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ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:6
UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:73
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Search
GEO
for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant.
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Cellular components related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:
Molecular functions related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:
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