EDMD1
MCID: EMR017
MIFTS: 41

Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EDMD1)

Categories: Genetic diseases, Muscle diseases, Neuronal 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 12 75 29 13 6
Edmd1 57 12 75
Emd1 57 12 75
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 57 12
X-Linked Emery-Dreifuss Muscular Dystrophy 1 12 15
X-Linked Emery-Dreifuss Muscular Dystrophy 75 73
Humeroperoneal Neuromuscular Disease 12 75
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
Scapuloperoneal Syndrome, X-Linked 12
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 edmd1, 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 1, X-Linked is EMD (Emerin), and among its related pathways/superpathways are Ectoderm Differentiation and Granzyme Pathway. Affiliated tissues include skin, heart and adipocyte, and related phenotypes are pectus excavatum and sudden cardiac death

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of EMD on chromosome Xq28.

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

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 12)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 sudden cardiac death 32 HP:0001645
3 myopathy 32 HP:0003198
4 atrioventricular block 32 HP:0001678
5 elevated serum creatine phosphokinase 32 HP:0003236
6 achilles tendon contracture 32 HP:0001771
7 waddling gait 32 HP:0002515
8 elbow flexion contracture 32 HP:0002987
9 decreased cervical spine flexion due to contractures of posterior cervical muscles 32 HP:0004631
10 type 1 muscle fiber atrophy 32 HP:0011807
11 abnormality of the neck 32 HP:0000464
12 atrial arrhythmia 32 HP:0001692

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, Adipocyte

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

Articles related to Emery-Dreifuss Muscular Dystrophy 1, 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 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 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 EMD NM_000117.2(EMD): c.470G> A (p.Arg157Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148515772 GRCh37 Chromosome X, 153609262: 153609262
2 EMD NM_000117.2(EMD): c.470G> A (p.Arg157Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148515772 GRCh38 Chromosome X, 154380902: 154380902
3 EMD NM_000117.2(EMD): c.144C> T (p.Leu48=) single nucleotide variant Benign/Likely benign rs200537612 GRCh37 Chromosome X, 153608111: 153608111
4 EMD NM_000117.2(EMD): c.144C> T (p.Leu48=) single nucleotide variant Benign/Likely benign rs200537612 GRCh38 Chromosome X, 154379751: 154379751
5 EMD NM_000117.2(EMD): c.272A> G (p.Asn91Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137977232 GRCh37 Chromosome X, 153608600: 153608600
6 EMD NM_000117.2(EMD): c.272A> G (p.Asn91Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137977232 GRCh38 Chromosome X, 154380240: 154380240
7 EMD NM_000117.2(EMD): c.396C> T (p.His132=) single nucleotide variant Benign/Likely benign rs145985318 GRCh37 Chromosome X, 153608724: 153608724
8 EMD NM_000117.2(EMD): c.396C> T (p.His132=) single nucleotide variant Benign/Likely benign rs145985318 GRCh38 Chromosome X, 154380364: 154380364
9 EMD NM_000117.2(EMD): c.465C> T (p.Tyr155=) single nucleotide variant Benign rs143447675 GRCh37 Chromosome X, 153609257: 153609257
10 EMD NM_000117.2(EMD): c.465C> T (p.Tyr155=) single nucleotide variant Benign rs143447675 GRCh38 Chromosome X, 154380897: 154380897
11 EMD NM_000117.2(EMD): c.495G> A (p.Thr165=) single nucleotide variant Conflicting interpretations of pathogenicity rs151074632 GRCh37 Chromosome X, 153609287: 153609287
12 EMD NM_000117.2(EMD): c.495G> A (p.Thr165=) single nucleotide variant Conflicting interpretations of pathogenicity rs151074632 GRCh38 Chromosome X, 154380927: 154380927
13 EMD NM_000117.2(EMD): c.646G> A (p.Gly216Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147920229 GRCh37 Chromosome X, 153609438: 153609438
14 EMD NM_000117.2(EMD): c.646G> A (p.Gly216Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147920229 GRCh38 Chromosome X, 154381078: 154381078
15 EMD NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del) deletion Likely pathogenic rs398123156 GRCh37 Chromosome X, 153608612: 153608626
16 EMD NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del) deletion Likely pathogenic rs398123156 GRCh38 Chromosome X, 154380252: 154380266
17 EMD NM_000117.2(EMD): c.598T> C (p.Trp200Arg) single nucleotide variant Uncertain significance rs374981936 GRCh37 Chromosome X, 153609390: 153609390
18 EMD NM_000117.2(EMD): c.598T> C (p.Trp200Arg) single nucleotide variant Uncertain significance rs374981936 GRCh38 Chromosome X, 154381030: 154381030
19 EMD NM_000117.2(EMD): c.70G> A (p.Gly24Arg) single nucleotide variant Uncertain significance rs727504628 GRCh38 Chromosome X, 154379554: 154379554
20 EMD NM_000117.2(EMD): c.70G> A (p.Gly24Arg) single nucleotide variant Uncertain significance rs727504628 GRCh37 Chromosome X, 153607914: 153607914
21 EMD NM_000117.2(EMD): c.454C> T (p.Arg152Cys) single nucleotide variant Uncertain significance rs376456050 GRCh37 Chromosome X, 153609246: 153609246
22 EMD NM_000117.2(EMD): c.454C> T (p.Arg152Cys) single nucleotide variant Uncertain significance rs376456050 GRCh38 Chromosome X, 154380886: 154380886
23 EMD NM_000117.2(EMD): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance rs782222974 GRCh37 Chromosome X, 153608070: 153608070
24 EMD NM_000117.2(EMD): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance rs782222974 GRCh38 Chromosome X, 154379710: 154379710
25 EMD NM_000117.2(EMD): c.466G> A (p.Gly156Ser) single nucleotide variant Likely benign rs144594695 GRCh37 Chromosome X, 153609258: 153609258
26 EMD NM_000117.2(EMD): c.466G> A (p.Gly156Ser) single nucleotide variant Likely benign rs144594695 GRCh38 Chromosome X, 154380898: 154380898
27 EMD NM_000117.2(EMD): c.608G> A (p.Arg203His) single nucleotide variant Uncertain significance rs144842093 GRCh37 Chromosome X, 153609400: 153609400
28 EMD NM_000117.2(EMD): c.608G> A (p.Arg203His) single nucleotide variant Uncertain significance rs144842093 GRCh38 Chromosome X, 154381040: 154381040
29 EMD NM_000117.2(EMD): c.610C> T (p.Arg204Cys) single nucleotide variant Uncertain significance rs782299893 GRCh37 Chromosome X, 153609402: 153609402
30 EMD NM_000117.2(EMD): c.610C> T (p.Arg204Cys) single nucleotide variant Uncertain significance rs782299893 GRCh38 Chromosome X, 154381042: 154381042
31 EMD NM_000117.2(EMD): c.671C> T (p.Pro224Leu) single nucleotide variant Uncertain significance rs782559230 GRCh37 Chromosome X, 153609463: 153609463
32 EMD NM_000117.2(EMD): c.671C> T (p.Pro224Leu) single nucleotide variant Uncertain significance rs782559230 GRCh38 Chromosome X, 154381103: 154381103
33 EMD NM_000117.2(EMD): c.400-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782061626 GRCh38 Chromosome X, 154380744: 154380744
34 EMD NM_000117.2(EMD): c.400-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782061626 GRCh37 Chromosome X, 153609104: 153609104
35 EMD NM_000117.2(EMD): c.57C> T (p.Tyr19=) single nucleotide variant Likely benign rs371661299 GRCh37 Chromosome X, 153607901: 153607901
36 EMD NM_000117.2(EMD): c.57C> T (p.Tyr19=) single nucleotide variant Likely benign rs371661299 GRCh38 Chromosome X, 154379541: 154379541
37 EMD NM_000117.2(EMD): c.153dupC (p.Ser52Glnfs) duplication Pathogenic rs876661345 GRCh38 Chromosome X, 154379760: 154379760
38 EMD NM_000117.2(EMD): c.153dupC (p.Ser52Glnfs) duplication Pathogenic rs876661345 GRCh37 Chromosome X, 153608120: 153608120
39 EMD NM_000117.2(EMD): c.-248_*326dup1339 duplication Uncertain significance GRCh38 Chromosome X, 154379237: 154381523
40 EMD NM_000117.2(EMD): c.-248_*326dup1339 duplication Uncertain significance GRCh37 Chromosome X, 153607597: 153609883
41 EMD NM_000117.2(EMD): c.428C> T (p.Ser143Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139983160 GRCh38 Chromosome X, 154380781: 154380781
42 EMD NM_000117.2(EMD): c.428C> T (p.Ser143Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139983160 GRCh37 Chromosome X, 153609141: 153609141
43 EMD NM_000117.2(EMD): c.445G> C (p.Asp149His) single nucleotide variant Benign rs2070818 GRCh37 Chromosome X, 153609158: 153609158
44 EMD NM_000117.2(EMD): c.445G> C (p.Asp149His) single nucleotide variant Benign rs2070818 GRCh38 Chromosome X, 154380798: 154380798
45 EMD NM_000117.2(EMD): c.60delC (p.Asn20Lysfs) deletion Pathogenic/Likely pathogenic rs886041854 GRCh37 Chromosome X, 153607904: 153607904
46 EMD NM_000117.2(EMD): c.60delC (p.Asn20Lysfs) deletion Pathogenic/Likely pathogenic rs886041854 GRCh38 Chromosome X, 154379544: 154379544
47 EMD NM_000117.2(EMD): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886044771 GRCh37 Chromosome X, 153607847: 153607847
48 EMD NM_000117.2(EMD): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886044771 GRCh38 Chromosome X, 154379487: 154379487
49 EMD NM_000117.2(EMD): c.525C> T (p.Ser175=) single nucleotide variant Conflicting interpretations of pathogenicity rs782367505 GRCh37 Chromosome X, 153609317: 153609317
50 EMD NM_000117.2(EMD): c.525C> T (p.Ser175=) single nucleotide variant Conflicting interpretations of pathogenicity rs782367505 GRCh38 Chromosome X, 154380957: 154380957

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

Pathways related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 EDA NUMA1
2
Show member pathways
10.65 LMNA NUMA1
3
Show member pathways
10.14 EMD LMNA

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

Cellular components related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle pole centrosome GO:0031616 8.62 EMD NUMA1

Biological processes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.26 EMD MYOD1
2 skeletal muscle cell differentiation GO:0035914 9.16 EMD MYOD1
3 nucleus organization GO:0006997 8.96 LMNA NUMA1
4 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

Sources for Emery-Dreifuss Muscular Dystrophy 1, 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....