MCID: EMR004
MIFTS: 25

Emery-Dreifuss Muscular Dystrophy, X-Linked malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

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

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Sources:
32LifeMap Discovery®, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 32 45
X-Linked Emery-Dreifuss Muscular Dystrophy 51 24 65
Edmd1 45 51
 
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 45
Emerinopathy 51

Characteristics:

Orphanet epidemiological data:

51
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive

Classifications:



External Ids:

Orphanet51 98863
ICD10 via Orphanet28 G71.0
UMLS via Orphanet66 C0751337
UMLS65 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:45 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 emd-related emery-dreifuss muscular dystrophy, x-linked and fhl1-related emery-dreifuss muscular dystrophy, x-linked. An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is EMD (Emerin). Affiliated tissues include skeletal muscle, heart and myeloid, and related mouse phenotype muscle.

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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Interventional clinical trials:

Search ClinicalTrials, 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:

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Skeletal muscle, Heart, Myeloid, Monocytes

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EMD, FHL1

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Clinvar genetic disease variations for Emery-Dreifuss Muscular Dystrophy, X-Linked:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EMDEMD, 2-BP DEL, NT564deletionPathogenic
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenic
4EMDEMD, 2-BP INS, NT198insertionPathogenic
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenic
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenic
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)single nucleotide variantPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)single nucleotide variantPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenic

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

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Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet