MCID: EMR004
MIFTS: 25

Emery-Dreifuss Muscular Dystrophy, X-Linked malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

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

About this section
Sources:
32LifeMap Discovery®, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

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 65
Edmd1 45 51
 
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 45
Emerinopathy 51


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
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 limb-girdle muscular dystrophy and emery-dreifuss muscular dystrophy. An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is EMD (Emerin). Affiliated tissues include skeletal muscle, heart and monocytes.

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

About this section

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

About this section

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

About this section

Interventional clinical trials:

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

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

About this section

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

About this section

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

33
Skeletal muscle, Heart, Monocytes, Myeloid

Animal Models for Emery-Dreifuss Muscular Dystrophy, X-Linked or affiliated genes

About this section

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1EMDNM_000117.2(EMD): c.266-2A> Gsingle nucleotide variantPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
2EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446
3EMDNM_000117.2(EMD): c.83-2A> Gsingle nucleotide variantLikely pathogenicrs727504901GRCh37Chr X, 153608048: 153608048

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

About this section
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

About this section

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

About this section

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

About this section
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