EDMD1
MCID: EMR004
MIFTS: 25

Emery-Dreifuss Muscular Dystrophy, X-Linked (EDMD1) malady

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

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

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

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 38 50
X-Linked Emery-Dreifuss Muscular Dystrophy 56 29 69
Edmd1 50 56
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 50
Emerinopathy 56

Characteristics:

Orphanet epidemiological data:

56
x-linked emery-dreifuss muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom);

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA98863
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 70 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

NIH Rare Diseases : 50 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 heart, and related phenotype is muscle.

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

Graphical network of the top 20 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

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


waddling gait

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 EMD FHL1

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy, X-Linked

Interventional clinical trials:


id Name Status NCT ID Phase
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy, X-Linked 29

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

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

39
Heart

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 EMD EMD, 2-BP DEL, NT564 deletion Pathogenic
2 EMD NM_000117.2(EMD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs267606782 GRCh37 Chromosome X, 153607845: 153607845
3 EMD EMD, 29-BP DEL, NT113 deletion Pathogenic
4 EMD EMD, 2-BP INS, NT198 insertion Pathogenic
5 EMD EMD, IVSAS, A-G, -3, 214-BP INS insertion Pathogenic
6 EMD NM_000117.2(EMD): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs132630262 GRCh37 Chromosome X, 153608097: 153608097
7 EMD EMD, 1-BP DEL, FS236TER deletion Pathogenic
8 EMD NM_000117.2(EMD): c.548C> A (p.Pro183His) single nucleotide variant Pathogenic rs104894805 GRCh37 Chromosome X, 153609340: 153609340
9 EMD NM_000117.2(EMD): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs104894806 GRCh37 Chromosome X, 153609339: 153609339
10 EMD EMD, 5-BP DEL, NT631 deletion Pathogenic
11 EMD NM_000117.2(EMD): c.266-2A> G single nucleotide variant Pathogenic rs727503036 GRCh37 Chromosome X, 153608592: 153608592
12 EMD NM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs) duplication Pathogenic rs730880352 GRCh37 Chromosome X, 153609442: 153609446
13 EMD NM_000117.2(EMD): c.83-2A> G single nucleotide variant Likely pathogenic rs727504901 GRCh37 Chromosome X, 153608048: 153608048

Expression for Emery-Dreifuss Muscular Dystrophy, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy, X-Linked.

Pathways for Emery-Dreifuss Muscular Dystrophy, X-Linked

GO Terms for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 EMD FHL1

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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