MCID: EMR017
MIFTS: 30

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy 1, X-Linked 57 75 29 13 6
X-Linked Emery-Dreifuss Muscular Dystrophy 75 73
Edmd1 57 75
Emd1 57 75
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 57
Muscular Dystrophy Tardive Dreifuss-Emery Type with Contractures 75
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked 40
Humeroperoneal Neuromuscular Disease, Formerly 57
Scapuloperoneal Syndrome, X-Linked, Formerly 57
Humeroperoneal Neuromuscular Disease 75
Scapuloperoneal Syndrome X-Linked 75
X-Edmd 75

Characteristics:

OMIM:

57
Miscellaneous:
onset in childhood
adult onset has been rarely reported
risk of sudden death due to cardiac defects
female carriers may have cardiac defects

Inheritance:
x-linked recessive


HPO:

32
emery-dreifuss muscular dystrophy 1, x-linked:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

OMIM : 57 Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (300376). (310300)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and scapuloperoneal myopathy, x-linked dominant, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy 1, X-Linked is EMD (Emerin). Affiliated tissues include skin and heart, and related phenotypes are pectus excavatum and sudden cardiac death

UniProtKB/Swiss-Prot : 75 Emery-Dreifuss muscular dystrophy 1, X-linked: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

Related Diseases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 11.6
2 scapuloperoneal myopathy, x-linked dominant 11.2
3 myopathy, x-linked, with postural muscle atrophy 10.9
4 emery-dreifuss muscular dystrophy, x-linked 10.9
5 neuromuscular disease 10.0

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:



Diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrioventricular block
cardiac conduction defects
atrial arrhythmias

Laboratory Abnormalities:
increased serum creatine kinase
atrial abnormalities on electrocardiogram
myopathy with type i fiber atrophy on muscle biopsy
absence of emerin by immunohistochemistry on muscle biopsy

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Skeletal Feet:
contractures of the achilles tendon

Neurologic Central Nervous System:
waddling gait
tendency to walk on toes

Skeletal Limbs:
contractures of the elbows

Head And Neck Neck:
contracture of post-cervical muscles

Muscle Soft Tissue:
slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution
absence of muscle pseudohypertrophy


Clinical features from OMIM:

310300

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 sudden cardiac death 32 HP:0001645
3 atrioventricular block 32 HP:0001678
4 elevated serum creatine phosphokinase 32 HP:0003236
5 abnormality of the neck 32 HP:0000464
6 waddling gait 32 HP:0002515
7 elbow flexion contracture 32 HP:0002987
8 achilles tendon contracture 32 HP:0001771
9 decreased cervical spine flexion due to contractures of posterior cervical muscles 32 HP:0004631
10 atrial arrhythmia 32 HP:0001692
11 type 1 muscle fiber atrophy 32 HP:0011807

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:


waddling gait

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

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

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

41
Skin, Heart

Publications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

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

Variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 EMD p.Ser54Phe VAR_005198
2 EMD p.Pro183His VAR_005199 rs104894805
3 EMD p.Pro183Thr VAR_005200 rs104894806
4 EMD p.Gln133His VAR_016016

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

6
(show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 EMD NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del) deletion Likely pathogenic rs398123156 GRCh37 Chromosome X, 153608612: 153608626
2 EMD NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del) deletion Likely pathogenic rs398123156 GRCh38 Chromosome X, 154380252: 154380266
3 EMD NM_000117.2(EMD): c.598T> C (p.Trp200Arg) single nucleotide variant Uncertain significance rs374981936 GRCh37 Chromosome X, 153609390: 153609390
4 EMD NM_000117.2(EMD): c.598T> C (p.Trp200Arg) single nucleotide variant Uncertain significance rs374981936 GRCh38 Chromosome X, 154381030: 154381030
5 EMD NM_000117.2(EMD): c.70G> A (p.Gly24Arg) single nucleotide variant Uncertain significance rs727504628 GRCh37 Chromosome X, 153607914: 153607914
6 EMD NM_000117.2(EMD): c.70G> A (p.Gly24Arg) single nucleotide variant Uncertain significance rs727504628 GRCh38 Chromosome X, 154379554: 154379554
7 EMD NM_000117.2(EMD): c.454C> T (p.Arg152Cys) single nucleotide variant Uncertain significance rs376456050 GRCh37 Chromosome X, 153609246: 153609246
8 EMD NM_000117.2(EMD): c.454C> T (p.Arg152Cys) single nucleotide variant Uncertain significance rs376456050 GRCh38 Chromosome X, 154380886: 154380886
9 EMD NM_000117.2(EMD): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance rs782222974 GRCh37 Chromosome X, 153608070: 153608070
10 EMD NM_000117.2(EMD): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance rs782222974 GRCh38 Chromosome X, 154379710: 154379710
11 EMD NM_000117.2(EMD): c.466G> A (p.Gly156Ser) single nucleotide variant Likely benign rs144594695 GRCh37 Chromosome X, 153609258: 153609258
12 EMD NM_000117.2(EMD): c.466G> A (p.Gly156Ser) single nucleotide variant Likely benign rs144594695 GRCh38 Chromosome X, 154380898: 154380898
13 EMD NM_000117.2(EMD): c.608G> A (p.Arg203His) single nucleotide variant Uncertain significance rs144842093 GRCh37 Chromosome X, 153609400: 153609400
14 EMD NM_000117.2(EMD): c.608G> A (p.Arg203His) single nucleotide variant Uncertain significance rs144842093 GRCh38 Chromosome X, 154381040: 154381040
15 EMD NM_000117.2(EMD): c.610C> T (p.Arg204Cys) single nucleotide variant Uncertain significance rs782299893 GRCh37 Chromosome X, 153609402: 153609402
16 EMD NM_000117.2(EMD): c.610C> T (p.Arg204Cys) single nucleotide variant Uncertain significance rs782299893 GRCh38 Chromosome X, 154381042: 154381042
17 EMD NM_000117.2(EMD): c.671C> T (p.Pro224Leu) single nucleotide variant Uncertain significance rs782559230 GRCh37 Chromosome X, 153609463: 153609463
18 EMD NM_000117.2(EMD): c.671C> T (p.Pro224Leu) single nucleotide variant Uncertain significance rs782559230 GRCh38 Chromosome X, 154381103: 154381103
19 EMD NM_000117.2(EMD): c.400-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782061626 GRCh38 Chromosome X, 154380744: 154380744
20 EMD NM_000117.2(EMD): c.400-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782061626 GRCh37 Chromosome X, 153609104: 153609104
21 EMD NM_000117.2(EMD): c.57C> T (p.Tyr19=) single nucleotide variant Likely benign rs371661299 GRCh37 Chromosome X, 153607901: 153607901
22 EMD NM_000117.2(EMD): c.57C> T (p.Tyr19=) single nucleotide variant Likely benign rs371661299 GRCh38 Chromosome X, 154379541: 154379541
23 EMD NM_000117.2(EMD): c.-248_*326dup1339 duplication Uncertain significance GRCh38 Chromosome X, 154379237: 154381523
24 EMD NM_000117.2(EMD): c.-248_*326dup1339 duplication Uncertain significance GRCh37 Chromosome X, 153607597: 153609883
25 EMD NM_000117.2(EMD): c.428C> T (p.Ser143Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139983160 GRCh38 Chromosome X, 154380781: 154380781
26 EMD NM_000117.2(EMD): c.428C> T (p.Ser143Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139983160 GRCh37 Chromosome X, 153609141: 153609141
27 EMD NM_000117.2(EMD): c.445G> C (p.Asp149His) single nucleotide variant Benign rs2070818 GRCh37 Chromosome X, 153609158: 153609158
28 EMD NM_000117.2(EMD): c.445G> C (p.Asp149His) single nucleotide variant Benign rs2070818 GRCh38 Chromosome X, 154380798: 154380798
29 EMD NM_000117.2(EMD): c.60delC (p.Asn20Lysfs) deletion Pathogenic/Likely pathogenic rs886041854 GRCh37 Chromosome X, 153607904: 153607904
30 EMD NM_000117.2(EMD): c.60delC (p.Asn20Lysfs) deletion Pathogenic/Likely pathogenic rs886041854 GRCh38 Chromosome X, 154379544: 154379544
31 EMD NM_000117.2(EMD): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886044771 GRCh37 Chromosome X, 153607847: 153607847
32 EMD NM_000117.2(EMD): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886044771 GRCh38 Chromosome X, 154379487: 154379487
33 EMD NM_000117.2(EMD): c.525C> T (p.Ser175=) single nucleotide variant Conflicting interpretations of pathogenicity rs782367505 GRCh37 Chromosome X, 153609317: 153609317
34 EMD NM_000117.2(EMD): c.525C> T (p.Ser175=) single nucleotide variant Conflicting interpretations of pathogenicity rs782367505 GRCh38 Chromosome X, 154380957: 154380957
35 EMD NM_000117.2(EMD): c.502C> T (p.Arg168Cys) single nucleotide variant Uncertain significance rs886044839 GRCh37 Chromosome X, 153609294: 153609294
36 EMD NM_000117.2(EMD): c.502C> T (p.Arg168Cys) single nucleotide variant Uncertain significance rs886044839 GRCh38 Chromosome X, 154380934: 154380934
37 EMD NM_000117.2(EMD): c.512C> A (p.Ser171Ter) single nucleotide variant Pathogenic rs886044901 GRCh37 Chromosome X, 153609304: 153609304
38 EMD NM_000117.2(EMD): c.512C> A (p.Ser171Ter) single nucleotide variant Pathogenic rs886044901 GRCh38 Chromosome X, 154380944: 154380944
39 EMD NM_000117.2(EMD): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs782011714 GRCh37 Chromosome X, 153607856: 153607856
40 EMD NM_000117.2(EMD): c.12C> T (p.Tyr4=) single nucleotide variant Conflicting interpretations of pathogenicity rs782011714 GRCh38 Chromosome X, 154379496: 154379496
41 EMD NM_000117.2(EMD): c.166G> A (p.Ala56Thr) single nucleotide variant Uncertain significance rs1057520579 GRCh37 Chromosome X, 153608133: 153608133
42 EMD NM_000117.2(EMD): c.166G> A (p.Ala56Thr) single nucleotide variant Uncertain significance rs1057520579 GRCh38 Chromosome X, 154379773: 154379773
43 EMD NM_000117.2(EMD): c.432A> G (p.Glu144=) single nucleotide variant Conflicting interpretations of pathogenicity rs377125466 GRCh38 Chromosome X, 154380785: 154380785
44 EMD NM_000117.2(EMD): c.432A> G (p.Glu144=) single nucleotide variant Conflicting interpretations of pathogenicity rs377125466 GRCh37 Chromosome X, 153609145: 153609145
45 EMD NM_000117.2(EMD): c.489C> T (p.Ser163=) single nucleotide variant Likely benign rs782558454 GRCh38 Chromosome X, 154380921: 154380921
46 EMD NM_000117.2(EMD): c.489C> T (p.Ser163=) single nucleotide variant Likely benign rs782558454 GRCh37 Chromosome X, 153609281: 153609281
47 EMD NM_000117.2(EMD): c.123C> A (p.Tyr41Ter) single nucleotide variant Pathogenic rs1060502612 GRCh38 Chromosome X, 154379730: 154379730
48 EMD NM_000117.2(EMD): c.123C> A (p.Tyr41Ter) single nucleotide variant Pathogenic rs1060502612 GRCh37 Chromosome X, 153608090: 153608090
49 EMD NC_000023.10: g.(?_154379237)_(154381523_?)del deletion Pathogenic GRCh37 Chromosome X, 154379237: 154381523
50 EMD NM_000117.2(EMD): c.674_678delTCTGG (p.Leu225Argfs) deletion Pathogenic GRCh38 Chromosome X, 154381106: 154381110

Expression for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 1, X-Linked.

Pathways for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

GO Terms for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Sources for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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