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:
27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
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Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 35 48
X-Linked Emery-Dreifuss Muscular Dystrophy 54 27 68
Edmd1 48 54
 
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 48
Emerinopathy 54

Characteristics:

Orphanet epidemiological data:

54
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom)

Classifications:



External Ids:

Orphanet54 ORPHA98863
ICD10 via Orphanet31 G71.0
UMLS via Orphanet69 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:48 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). 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 & Phenotypes for Emery-Dreifuss Muscular Dystrophy, X-Linked

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UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy, X-Linked:


waddling gait

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy, X-Linked according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EMD, FHL1

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-Linked27

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

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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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet