EDMD1
MCID: EMR004
MIFTS: 37

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

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

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

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 38 53 29 6
X-Linked Emery-Dreifuss Muscular Dystrophy 59 73
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 53
Emerydreifuss Muscular Dystrophy, X-Linked 76
Edmd1 53

Characteristics:

Orphanet epidemiological data:

59
x-linked emery-dreifuss muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom);

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA98863
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0751337
UMLS 73 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

NIH Rare Diseases : 53 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.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and muscular dystrophy, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is EMD (Emerin). Affiliated tissues include heart, skeletal muscle and skin, and related phenotypes are short neck and pectus excavatum

Wikipedia : 76 Emery�??Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such... more...

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

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

59 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 Frequent (79-30%)
2 pectus excavatum 59 Very frequent (99-80%)
3 obesity 59 Occasional (29-5%)
4 ptosis 59 Occasional (29-5%)
5 intellectual disability 59 Excluded (0%)
6 muscular hypotonia 59 Occasional (29-5%)
7 gait disturbance 59 Frequent (79-30%)
8 sudden cardiac death 59 Very rare (<4-1%)
9 scoliosis 59 Occasional (29-5%)
10 kyphosis 59 Occasional (29-5%)
11 hyperlordosis 59 Occasional (29-5%)
12 joint stiffness 59 Very frequent (99-80%)
13 ichthyosis 59 Occasional (29-5%)
14 myopathy 59 Very frequent (99-80%)
15 hypertrophic cardiomyopathy 59 Frequent (79-30%)
16 atrioventricular block 59 Occasional (29-5%)
17 respiratory insufficiency due to muscle weakness 59 Very rare (<4-1%)
18 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
19 hypertriglyceridemia 59 Frequent (79-30%)
20 myotonia 59 Very frequent (99-80%)
21 reduced tendon reflexes 59 Very frequent (99-80%)
22 limb-girdle muscular dystrophy 59 Very frequent (99-80%)
23 sprengel anomaly 59 Frequent (79-30%)
24 achilles tendon contracture 59 Occasional (29-5%)
25 waddling gait 59 Frequent (79-30%)
26 elbow flexion contracture 59 Occasional (29-5%)
27 increased circulating low-density lipoprotein levels 59 Frequent (79-30%)
28 spinal rigidity 59 Frequent (79-30%)
29 back pain 59 Frequent (79-30%)
30 emg: myopathic abnormalities 59 Frequent (79-30%)
31 scapular winging 59 Frequent (79-30%)
32 rimmed vacuoles 59 Frequent (79-30%)
33 decreased cervical spine flexion due to contractures of posterior cervical muscles 59 Frequent (79-30%)
34 proximal upper limb amyotrophy 59 Frequent (79-30%)
35 proximal lower limb amyotrophy 59 Frequent (79-30%)
36 proximal muscle weakness in lower limbs 59 Frequent (79-30%)
37 proximal muscle weakness in upper limbs 59 Frequent (79-30%)
38 type 1 muscle fiber atrophy 59 Frequent (79-30%)
39 absent muscle fiber emerin 59 Frequent (79-30%)
40 toe walking 59 Frequent (79-30%)
41 supraventricular arrhythmia 59 Occasional (29-5%)
42 lipodystrophy 59 Occasional (29-5%)
43 vocal cord paralysis 59 Very rare (<4-1%)
44 ventricular escape rhythm 59 Very rare (<4-1%)

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


waddling gait

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

46
# 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

Search Clinical Trials , 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:

# 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:

41
Heart, Skeletal Muscle, Skin, Adipocyte

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

(show all 32)
# Title Authors Year
1
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )
2018
2
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
3
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
4
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
5
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )
2011
6
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )
2010
7
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )
2010
8
Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. ( 17462627 )
2007
9
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )
2005
10
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ( 15272897 )
2004
11
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )
2002
12
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )
2002
13
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )
2002
14
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )
2001
15
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )
2001
16
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )
2000
17
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )
2000
18
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )
1999
19
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )
1999
20
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )
1999
21
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )
1999
22
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )
1999
23
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )
1999
24
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )
1998
25
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )
1998
26
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )
1997
27
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )
1997
28
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )
1997
29
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )
1997
30
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )
1993
31
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )
1991
32
Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )
1987

Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

6 (show all 20)
# 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 NM_000117.2(EMD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs267606782 GRCh38 Chromosome X, 154379485: 154379485
4 EMD EMD, 29-BP DEL, NT113 deletion Pathogenic
5 EMD EMD, 2-BP INS, NT198 insertion Pathogenic
6 EMD EMD, IVSAS, A-G, -3, 214-BP INS insertion Pathogenic
7 EMD NM_000117.2(EMD): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs132630262 GRCh37 Chromosome X, 153608097: 153608097
8 EMD NM_000117.2(EMD): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs132630262 GRCh38 Chromosome X, 154379737: 154379737
9 EMD EMD, 1-BP DEL, FS236TER deletion Pathogenic
10 EMD NM_000117.2(EMD): c.548C> A (p.Pro183His) single nucleotide variant Pathogenic rs104894805 GRCh37 Chromosome X, 153609340: 153609340
11 EMD NM_000117.2(EMD): c.548C> A (p.Pro183His) single nucleotide variant Pathogenic rs104894805 GRCh38 Chromosome X, 154380980: 154380980
12 EMD NM_000117.2(EMD): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs104894806 GRCh37 Chromosome X, 153609339: 153609339
13 EMD NM_000117.2(EMD): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs104894806 GRCh38 Chromosome X, 154380979: 154380979
14 EMD EMD, 5-BP DEL, NT631 deletion Pathogenic
15 EMD NM_000117.2(EMD): c.266-2A> G single nucleotide variant Pathogenic rs727503036 GRCh37 Chromosome X, 153608592: 153608592
16 EMD NM_000117.2(EMD): c.266-2A> G single nucleotide variant Pathogenic rs727503036 GRCh38 Chromosome X, 154380232: 154380232
17 EMD NM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs) duplication Pathogenic rs730880352 GRCh37 Chromosome X, 153609442: 153609446
18 EMD NM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs) duplication Pathogenic rs730880352 GRCh38 Chromosome X, 154381082: 154381086
19 EMD NM_000117.2(EMD): c.83-2A> G single nucleotide variant Likely pathogenic rs727504901 GRCh38 Chromosome X, 154379688: 154379688
20 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....