EDMD1
MCID: EMR004
MIFTS: 11

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

Genetic diseases, Rare diseases, Muscle diseases categories
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Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:42 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 based summary: 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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Emery-Dreifuss Muscular Dystrophy, X-Linked, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 30 42
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 42
 
X-Linked Emery-Dreifuss Muscular Dystrophy 62
Edmd1 42


Classifications:

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


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

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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-linked10.6
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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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy, X-Linked

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

32
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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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

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet