EDMD1
MCID: EMR017
MIFTS: 49
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Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EDMD1)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
onset in childhood adult onset has been rarely reported risk of sudden death due to cardiac defects female carriers may have cardiac defects
Inheritance:
x-linked recessive HPO:31
emery-dreifuss muscular dystrophy 1, x-linked:
Onset and clinical course juvenile onset slow progression childhood onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Muscle diseases Neuronal diseases |
OMIM® :
57
Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (300376).
(310300) (Updated 05-Mar-2021)
MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as muscular dystrophy, tardive, dreifuss-emery type, with contractures, is related to x-linked emery-dreifuss muscular dystrophy and myopathy, x-linked, with postural muscle atrophy, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy 1, X-Linked is EMD (Emerin), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and myopathy Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of EMD on chromosome Xq28. UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 1, X-linked: 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 1, X-Linked:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:310300 (Updated 05-Mar-2021)UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:waddling gait MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:46
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:40
Heart
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Articles related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:(show top 50) (show all 62)
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ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:6 (show top 50) (show all 457)
UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:73
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Search
GEO
for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 1, X-Linked.
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Pathways related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:
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Cellular components related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:
Molecular functions related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:
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