MCID: EMR004
MIFTS: 22

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:
26GTR, 30ICD10 via Orphanet, 34LifeMap Discovery®, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

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

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 34 47
X-Linked Emery-Dreifuss Muscular Dystrophy 53 26 67
Edmd1 47 53
 
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 47
Emerinopathy 53

Characteristics:

Orphanet epidemiological data:

53
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom)

Classifications:



External Ids:

Orphanet53 ORPHA98863
ICD10 via Orphanet30 G71.0
UMLS via Orphanet68 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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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). 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-Linked26

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

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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:

40
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, NT564deletionPathogenicChr na, -1: -1
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)SNVPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenicChr na, -1: -1
4EMDEMD, 2-BP INS, NT198insertionPathogenicChr na, -1: -1
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenicChr na, -1: -1
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)SNVPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenicChr na, -1: -1
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)SNVPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)SNVPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenicChr na, -1: -1
11EMDNM_000117.2(EMD): c.266-2A> GSNVPathogenicrs727503036GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet