MCID: EMR004
MIFTS: 26

Emery-Dreifuss Muscular Dystrophy, X-Linked malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

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

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Sources:
30LifeMap Discovery®, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Emery-Dreifuss Muscular Dystrophy, X-Linked, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 30 41
X-Linked Emery-Dreifuss Muscular Dystrophy 41 47 60
Emerinopathy 41 47
 
Edmd1 41 47
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive


External Ids:

Orphanet47 98863
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:41 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 x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and emd-related emery-dreifuss muscular dystrophy, x-linked. An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is FHL1 (four and a half LIM domains 1). Affiliated tissues include skeletal muscle, heart and myeloid, and related mouse phenotypes are behavior/neurological and cardiovascular system.

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

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Graphical network of diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked:



Diseases related to emery-dreifuss muscular dystrophy, x-linked

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:

31
Skeletal muscle, Heart, Myeloid

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

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FHL1, EMD
2MP:00053858.8FHL1, EMD

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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Biological processes related to Emery-Dreifuss Muscular Dystrophy, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.1FHL1, EMD

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet