MCID: EMR004
MIFTS: 27

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:
33LifeMap Discovery®, 46NIH Rare Diseases, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 33 46
X-Linked Emery-Dreifuss Muscular Dystrophy 52 25 66
Edmd1 46 52
 
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 46
Emerinopathy 52

Characteristics:

Orphanet epidemiological data:

52
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom)

Classifications:



External Ids:

Orphanet52 ORPHA98863
ICD10 via Orphanet29 G71.0
UMLS via Orphanet67 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:46 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, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is EMD (Emerin). Affiliated tissues include skeletal muscle, heart and monocytes, 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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UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy, X-Linked:


waddling gait

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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Genetic tests related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy, X-Linked25

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

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

34
Skeletal muscle, Heart, Monocytes, 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:

39
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 (show all 12)
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
11EMDNM_000117.2(EMD): c.266-2A> Gsingle nucleotide variantPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
12EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446

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

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

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet