EDMD1
MCID: EMR004
MIFTS: 12

Emery-Dreifuss Muscular Dystrophy, X-Linked (EDMD1) malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 Emery-dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. by adulthood, most people with  emery-dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. emery-dreifuss muscular dystrophy is caused by mutations in the emd and lmna genes. it can be inherited in an x-linked, autosomal dominant, or autosomal recessive fashion. last updated: 8/16/2013

MalaCards: Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as muscular dystrophy, tardive emery-dreifuss type, with contractures, is related to emd-related emery-dreifuss muscular dystrophy, x-linked and fhl1-related emery-dreifuss muscular dystrophy, x-linked. Affiliated tissues include heart.

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy, X-Linked

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Aliases & Descriptions:

emery-dreifuss muscular dystrophy, x-linked 44
muscular dystrophy, tardive emery-dreifuss type, with contractures 44
x-linked emery-dreifuss muscular dystrophy 63
edmd1 44


Related Diseases for Emery-Dreifuss Muscular Dystrophy, X-Linked

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18GeneCards, 19GeneDecks
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Diseases in the Emery-Dreifuss Muscular Dystrophy 1, X-Linked family:

emery-dreifuss muscular dystrophy, x-linked Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1emd-related emery-dreifuss muscular dystrophy, x-linked10.7
2fhl1-related emery-dreifuss muscular dystrophy, x-linked10.7
3myopathy with postural muscle atrophy, x-linked10.2
4emery-dreifuss muscular dystrophy 1, x-linked10.1

Symptoms for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Anatomical Context for Emery-Dreifuss Muscular Dystrophy, X-Linked

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34MalaCards
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

34
Heart

Animal Models for Emery-Dreifuss Muscular Dystrophy, X-Linked or affiliated genes

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Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Sources:
16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy, X-Linked.

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet