MCID: EMR004
MIFTS: 37

Emery-Dreifuss Muscular Dystrophy, X-Linked

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 39 77 54 30 6
X-Linked Emery-Dreifuss Muscular Dystrophy 60 74
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 54
Edmd1 54

Characteristics:

Orphanet epidemiological data:

60
x-linked emery-dreifuss muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom);

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C0751337
Orphanet 60 ORPHA98863
UMLS 74 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

NIH Rare Diseases : 54 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 : 77 Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as... 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:

60 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 Frequent (79-30%)
2 pectus excavatum 60 Very frequent (99-80%)
3 obesity 60 Occasional (29-5%)
4 ptosis 60 Occasional (29-5%)
5 intellectual disability 60 Excluded (0%)
6 muscular hypotonia 60 Occasional (29-5%)
7 gait disturbance 60 Frequent (79-30%)
8 sudden cardiac death 60 Very rare (<4-1%)
9 scoliosis 60 Occasional (29-5%)
10 kyphosis 60 Occasional (29-5%)
11 hyperlordosis 60 Occasional (29-5%)
12 joint stiffness 60 Very frequent (99-80%)
13 ichthyosis 60 Occasional (29-5%)
14 myopathy 60 Very frequent (99-80%)
15 hypertrophic cardiomyopathy 60 Frequent (79-30%)
16 atrioventricular block 60 Occasional (29-5%)
17 respiratory insufficiency due to muscle weakness 60 Very rare (<4-1%)
18 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
19 hypertriglyceridemia 60 Frequent (79-30%)
20 myotonia 60 Very frequent (99-80%)
21 reduced tendon reflexes 60 Very frequent (99-80%)
22 limb-girdle muscular dystrophy 60 Very frequent (99-80%)
23 sprengel anomaly 60 Frequent (79-30%)
24 achilles tendon contracture 60 Occasional (29-5%)
25 waddling gait 60 Frequent (79-30%)
26 elbow flexion contracture 60 Occasional (29-5%)
27 increased circulating low-density lipoprotein levels 60 Frequent (79-30%)
28 spinal rigidity 60 Frequent (79-30%)
29 back pain 60 Frequent (79-30%)
30 emg: myopathic abnormalities 60 Frequent (79-30%)
31 scapular winging 60 Frequent (79-30%)
32 rimmed vacuoles 60 Frequent (79-30%)
33 decreased cervical spine flexion due to contractures of posterior cervical muscles 60 Frequent (79-30%)
34 proximal upper limb amyotrophy 60 Frequent (79-30%)
35 proximal lower limb amyotrophy 60 Frequent (79-30%)
36 proximal muscle weakness in lower limbs 60 Frequent (79-30%)
37 proximal muscle weakness in upper limbs 60 Frequent (79-30%)
38 type 1 muscle fiber atrophy 60 Frequent (79-30%)
39 absent muscle fiber emerin 60 Frequent (79-30%)
40 toe walking 60 Frequent (79-30%)
41 supraventricular arrhythmia 60 Occasional (29-5%)
42 lipodystrophy 60 Occasional (29-5%)
43 vocal cord paralysis 60 Very rare (<4-1%)
44 ventricular escape rhythm 60 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:

47
# 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 30

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

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

42
Heart, Skeletal Muscle, Skin, Adipocyte

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

(show all 36)
# 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. ( 25542668 )
2015
3
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
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
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )
2010
7
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )
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
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )
2002
12
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )
2002
13
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )
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
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )
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
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )
1999
22
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )
1999
23
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )
1999
24
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. ( 9536090 )
1998
25
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )
1998
26
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )
1998
27
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )
1997
28
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )
1997
29
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )
1997
30
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )
1997
31
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. ( 8655156 )
1996
32
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. ( 8595406 )
1995
33
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. ( 7894480 )
1994
34
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )
1993
35
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )
1991
36
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

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