EDMD1
MCID: EMR017
MIFTS: 46

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 56 12 73 29 13 6
Edmd1 56 12 73
Emd1 56 12 73
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 56 12
X-Linked Emery-Dreifuss Muscular Dystrophy 1 12 15
X-Linked Emery-Dreifuss Muscular Dystrophy 73 71
Humeroperoneal Neuromuscular Disease 12 73
Muscular Dystrophy Tardive Dreifuss-Emery Type with Contractures 73
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked 39
Humeroperoneal Neuromuscular Disease, Formerly 56
Scapuloperoneal Syndrome, X-Linked, Formerly 56
Scapuloperoneal Syndrome, X-Linked 12
Scapuloperoneal Syndrome X-Linked 73
X-Edmd 73

Characteristics:

OMIM:

56
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:

31
emery-dreifuss muscular dystrophy 1, x-linked:
Onset and clinical course juvenile onset slow progression childhood onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070246
OMIM 56 310300
OMIM Phenotypic Series 56 PS310300
MeSH 43 D020389
UMLS 71 C0751337

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

OMIM : 56 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 x-linked emery-dreifuss muscular dystrophy and myopathy, x-linked, with postural muscle atrophy, 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 Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Affiliated tissues include heart, and related phenotypes are myopathy and atrioventricular block

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 : 73 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 1, X-Linked family:

X-Linked Emery-Dreifuss Muscular Dystrophy

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 x-linked emery-dreifuss muscular dystrophy 34.4 SYNE2 SYNE1 LMNA EMD
2 myopathy, x-linked, with postural muscle atrophy 30.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
3 first-degree atrioventricular block 30.6 LMNA EMD
4 myopathy 29.5 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
5 dilated cardiomyopathy 29.4 TMEM43 SYNE2 SYNE1 SUN2 LMO7 LMNA
6 neuromuscular disease 28.9 SUN2 LMNB2 LMNB1 LMNA EMD
7 muscular dystrophy 27.1 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
8 emery-dreifuss muscular dystrophy 2, autosomal dominant 27.0 TMEM43 TMEM201 SYNE2 SYNE1 SUN2 SUN1
9 emery-dreifuss muscular dystrophy 25.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMO7
10 scapuloperoneal myopathy, myh7-related 11.8
11 scapuloperoneal myopathy, x-linked dominant 11.7
12 cardiac conduction defect 10.8
13 atrial standstill 1 10.6
14 cardiac arrhythmia 10.6
15 sick sinus syndrome 10.6
16 lipomatosis, multiple 10.5
17 muscular dystrophy, duchenne type 10.5
18 myopathy, proximal, with ophthalmoplegia 10.5
19 sinoatrial node disease 10.5
20 pleomorphic lipoma 10.5
21 heart conduction disease 10.5
22 limb-girdle muscular dystrophy 10.5
23 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TMEM43 LMNA
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TMEM43 LMNA
25 muscular atrophy 10.2
26 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
27 arrhythmogenic right ventricular dysplasia, familial, 5 10.2 TMEM43 EMD
28 atrioventricular block 10.2
29 syncope 10.2
30 emerinopathy 10.1 SUN2 LMNA EMD
31 left bundle branch hemiblock 10.1 TMEM43 LMNA
32 progeroid syndrome 10.1 LMNA BANF1
33 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
34 familial partial lipodystrophy 9.9 LMNA EMD BANF1
35 muscular disease 9.8 LMNB2 LMNA EMD
36 melorheostosis 9.8 LEXM LEMD3 EMD
37 walker-warburg syndrome 9.7 LMNA LEMD3 EMD
38 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.7 TMEM43 SYNE2 SYNE1 LMNA EMD
39 arrhythmogenic right ventricular cardiomyopathy 9.7 TMEM43 LMNA EMD
40 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
41 spinocerebellar ataxia, autosomal recessive 8 9.6 SYNE2 SYNE1 SUN2 SUN1 EMD
42 laminopathy 9.6 SYNE2 SUN2 SUN1 LMNA EMD
43 nonencapsulated sclerosing carcinoma 9.4 LMNB2 LMNB1 LMNA
44 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.3 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
45 lipodystrophy, familial partial, type 5 9.2 LMNB2 LMNB1 LMNA EMD
46 muscle tissue disease 9.2 LMNB2 LMNB1 LMNA EMD
47 reynolds syndrome 9.2 SUN2 LMNB2 LMNB1 LMNA
48 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.1 SYNE1 LMNB2 LMNB1 LMNA EMD
49 osteopoikilosis 8.9 LMNB2 LMNA LEXM LEMD3 EMD BANF1
50 charcot-marie-tooth disease 8.6 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA

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

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 atrioventricular block 31 HP:0001678
3 elevated serum creatine kinase 31 HP:0003236
4 pectus excavatum 31 HP:0000767
5 achilles tendon contracture 31 HP:0001771
6 waddling gait 31 HP:0002515
7 elbow flexion contracture 31 HP:0002987
8 decreased cervical spine flexion due to contractures of posterior cervical muscles 31 HP:0004631
9 type 1 muscle fiber atrophy 31 HP:0011807
10 sudden cardiac death 31 HP:0001645
11 abnormality of the neck 31 HP:0000464
12 atrial arrhythmia 31 HP:0001692

Symptoms via clinical synopsis from OMIM:

56
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

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


waddling gait

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 EMD LEMD3 LEXM LMNA LMNB1 LMNB2
2 mortality/aging MP:0010768 9.9 LEMD3 LEXM LMNA LMNB1 LMNB2 LMO7
3 muscle MP:0005369 9.61 EMD LMNA LMNB1 LMNB2 LMO7 SUN1
4 respiratory system MP:0005388 9.1 LMNA LMNB1 LMNB2 LMO7 SYNE1 SYNE2

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:

40
Heart

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

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

(show top 50) (show all 64)
# Title Authors PMID Year
1
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 6 56
10382909 1999
2
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 56 6
10323252 1999
3
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. 56 6
9536090 1998
4
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. 6 56
8655156 1996
5
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 6 56
8595406 1995
6
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 56 6
7894480 1994
7
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
8
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 56
17761684 2007
9
Limb-girdle muscular dystrophy due to emerin gene mutations. 56
17620497 2007
10
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? 56
17536044 2007
11
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
12
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. 56
11159939 2001
13
Mutation analysis in Emery-Dreifuss muscular dystrophy. 56
10428430 1999
14
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. 56
10377322 1999
15
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. 56
10480214 1999
16
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. 56
10382910 1999
17
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. 56
9949197 1999
18
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. 56
9361031 1997
19
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. 56
10732816 1997
20
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 56
9195226 1997
21
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. 56
8776595 1996
22
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 56
8589715 1996
23
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 56
8595407 1995
24
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 56
7919974 1994
25
Emery-Dreifuss syndrome: genetic and clinical varieties. 56
8042665 1994
26
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. 56
8445613 1993
27
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 56
1998333 1991
28
Emery-Dreifuss syndrome. 56
2685312 1989
29
Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity. 56
2924429 1989
30
Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. 56
3417305 1988
31
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). 56
3319295 1987
32
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. 56
2879931 1986
33
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. 56
3100805 1986
34
A linkage study of Emery-Dreifuss muscular dystrophy. 56
3466853 1986
35
Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. 56
3736581 1986
36
Emery-Dreifuss syndrome. 56
3701378 1986
37
Emery-Dreifuss muscular dystrophy. 56
6707817 1984
38
Scapuloperoneal syndrome. Report on two families with neurogenic muscular atrophy. 56
7310437 1981
39
Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 56
7294729 1981
40
Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease. 56
6782879 1980
41
Emery-Dreifuss muscular dystrophy. 56
426473 1979
42
Fibre type disproportion in the rigid spine syndrome. 56
579444 1977
43
Rigid spine syndrome. A type I fiber myopathy. 56
836180 1977
44
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 56
1178008 1975
45
Letter: Serum-creatine-kinase levels in carriers of Becker muscular dystrophy. 56
4138389 1974
46
[A new kinship with X-chromosomal benign progressive muscular dystrophy and early contractures (Emery-Dreifuss)]. 56
4449913 1974
47
Rigid spine syndrome: a muscle syndrome in search of a name. 56
4697975 1973
48
Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. 56
4682070 1973
49
X-linked scapuloperoneal syndrome. 56
4113956 1972
50
[New type of recessive X-linked muscular dystrophy: scapulo-humeral-distal muscular dystrophy with early contractures and cardiac arrhythmias]. 56
5082100 1972

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

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

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMD NM_000117.2(EMD):c.123C>A (p.Tyr41Ter)SNV Pathogenic 409877 rs1060502612 X:153608090-153608090 X:154379730-154379730
2 EMD NM_000117.2(EMD):c.621del (p.Pro208fs)deletion Pathogenic 433171 rs1557182670 X:153609412-153609412 X:154381052-154381052
3 EMD NM_000117.2(EMD):c.674_678del (p.Leu225fs)deletion Pathogenic 433169 rs1557182692 X:153609466-153609470 X:154381106-154381110
4 EMD NM_000117.3(EMD):c.82+1G>TSNV Pathogenic 433166 rs1557182214 X:153607927-153607927 X:154379567-154379567
5 EMD NC_000023.10:g.(?_154379237)_(154381523_?)deldeletion Pathogenic 433172 X:154379237-154381523
6 EMD NM_000117.2(EMD):c.430G>T (p.Glu144Ter)SNV Pathogenic 462824 rs1557182560 X:153609143-153609143 X:154380783-154380783
7 EMD NM_000117.2(EMD):c.12C>G (p.Tyr4Ter)SNV Pathogenic 462823 rs782011714 X:153607856-153607856 X:154379496-154379496
8 EMD NM_000117.2(EMD):c.484C>T (p.Gln162Ter)SNV Pathogenic 498989 rs1557182611 X:153609276-153609276 X:154380916-154380916
9 EMD NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs)short repeat Pathogenic 531732 rs1557182364 X:153608328-153608329 X:154379968-154379969
10 EMD NM_000117.2(EMD):c.135dup (p.Arg46fs)duplication Pathogenic 531731 rs1557182301 X:153608100-153608101 X:154379740-154379741
11 EMD NM_000117.2(EMD):c.581_582del (p.Ser194fs)deletion Pathogenic 531738 rs1557182654 X:153609373-153609374 X:154381013-154381014
12 EMD NC_000023.10:g.(?_153607825)_(153609577_?)deldeletion Pathogenic 583878 X:153607825-153609577
13 EMD NM_000117.2(EMD):c.607del (p.Arg203fs)deletion Pathogenic 582473 rs1569552106 X:153609397-153609397 X:154381037-154381037
14 subset of 25 genes: ABCD1 , AVPR2 , FLNA , L1CAM , MECP2 NC_000023.10:g.(?_152990712)_(153650075_?)deldeletion Pathogenic 665050 X:152990712-153650075
15 EMD NM_000117.2(EMD):c.101dup (p.Tyr34Ter)duplication Pathogenic 617762 rs1569552079 X:153608067-153608068 X:154379707-154379708
16 EMD NC_000023.10:g.(?_153609093)_(153609182_?)deldeletion Pathogenic 830683 X:153609093-153609182
17 EMD NM_000117.3(EMD):c.77dup (p.Val27fs)duplication Pathogenic 859127 X:153607920-153607921 X:154379560-154379561
18 EMD NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)SNV Pathogenic 804132 X:153607856-153607856 X:154379496-154379496
19 EMD NM_000117.3(EMD):c.475_476del (p.Ser159fs)deletion Pathogenic 839321 X:153609267-153609268 X:154380907-154380908
20 EMD NM_000117.3(EMD):c.83-2A>CSNV Pathogenic 857566 X:153608048-153608048 X:154379688-154379688
21 EMD NM_000117.2(EMD):c.1A>G (p.Met1Val)SNV Pathogenic 11172 rs267606782 X:153607845-153607845 X:154379485-154379485
22 EMD NM_000117.2(EMD):c.187+1G>TSNV Pathogenic 201772 rs794729010 X:153608155-153608155 X:154379795-154379795
23 EMD NM_000117.2(EMD):c.153dup (p.Ser52fs)duplication Pathogenic 234991 rs876661345 X:153608114-153608115 X:154379754-154379755
24 EMD NM_000117.2(EMD):c.3G>A (p.Met1Ile)SNV Pathogenic 281087 rs886044771 X:153607847-153607847 X:154379487-154379487
25 EMD NM_000117.2(EMD):c.60del (p.Asn20fs)deletion Pathogenic/Likely pathogenic 280697 rs886041854 X:153607904-153607904 X:154379544-154379544
26 EMD NM_000117.2(EMD):c.600G>A (p.Trp200Ter)SNV Pathogenic/Likely pathogenic 433174 rs1557182661 X:153609392-153609392 X:154381032-154381032
27 EMD NM_000117.2(EMD):c.16del (p.Asp6fs)deletion Likely pathogenic 617592 rs1569552076 X:153607860-153607860 X:154379500-154379500
28 EMD NM_000117.2(EMD):c.454C>T (p.Arg152Cys)SNV Conflicting interpretations of pathogenicity 198043 rs376456050 X:153609246-153609246 X:154380886-154380886
29 EMD NM_000117.3(EMD):c.646G>A (p.Gly216Arg)SNV Conflicting interpretations of pathogenicity 42278 rs147920229 X:153609438-153609438 X:154381078-154381078
30 EMD NM_000117.2(EMD):c.450-2A>GSNV Conflicting interpretations of pathogenicity 92441 rs398123158 X:153609240-153609240 X:154380880-154380880
31 EMD NM_000117.2(EMD):c.470G>A (p.Arg157Gln)SNV Conflicting interpretations of pathogenicity 36030 rs148515772 X:153609262-153609262 X:154380902-154380902
32 EMD NM_000117.3(EMD):c.144C>T (p.Leu48=)SNV Conflicting interpretations of pathogenicity 42271 rs200537612 X:153608111-153608111 X:154379751-154379751
33 EMD NM_000117.3(EMD):c.272A>G (p.Asn91Ser)SNV Conflicting interpretations of pathogenicity 42272 rs137977232 X:153608600-153608600 X:154380240-154380240
34 EMD NM_000117.2(EMD):c.537G>A (p.Leu179=)SNV Conflicting interpretations of pathogenicity 447314 rs368661339 X:153609329-153609329 X:154380969-154380969
35 EMD NM_000117.2(EMD):c.495G>T (p.Thr165=)SNV Conflicting interpretations of pathogenicity 498258 rs151074632 X:153609287-153609287 X:154380927-154380927
36 EMD NM_000117.2(EMD):c.432A>G (p.Glu144=)SNV Conflicting interpretations of pathogenicity 409878 rs377125466 X:153609145-153609145 X:154380785-154380785
37 EMD NM_000117.2(EMD):c.746A>G (p.Glu249Gly)SNV Conflicting interpretations of pathogenicity 531737 rs781947413 X:153609538-153609538 X:154381178-154381178
38 EMD NM_000117.2(EMD):c.243C>T (p.Asp81=)SNV Conflicting interpretations of pathogenicity 500679 rs150757295 X:153608357-153608357 X:154379997-154379997
39 EMD NM_000117.2(EMD):c.428C>T (p.Ser143Phe)SNV Conflicting interpretations of pathogenicity 237013 rs139983160 X:153609141-153609141 X:154380781-154380781
40 EMD NM_000117.2(EMD):c.525C>T (p.Ser175=)SNV Conflicting interpretations of pathogenicity 285047 rs782367505 X:153609317-153609317 X:154380957-154380957
41 EMD NM_000117.2(EMD):c.610C>G (p.Arg204Gly)SNV Conflicting interpretations of pathogenicity 286452 rs782299893 X:153609402-153609402 X:154381042-154381042
42 EMD NM_000117.2(EMD):c.466G>C (p.Gly156Arg)SNV Conflicting interpretations of pathogenicity 290157 rs144594695 X:153609258-153609258 X:154380898-154380898
43 EMD NM_000117.3(EMD):c.400-9C>TSNV Conflicting interpretations of pathogenicity 227353 rs782061626 X:153609104-153609104 X:154380744-154380744
44 EMD NM_000117.2(EMD):c.12C>T (p.Tyr4=)SNV Conflicting interpretations of pathogenicity 290626 rs782011714 X:153607856-153607856 X:154379496-154379496
45 EMD NM_000117.2(EMD):c.166G>A (p.Ala56Thr)SNV Uncertain significance 379342 rs1057520579 X:153608133-153608133 X:154379773-154379773
46 EMD NM_000117.2(EMD):c.-248_*326dup1339duplication Uncertain significance 237012 X:153607597-153609883 X:154379237-154381523
47 EMD NM_000117.2(EMD):c.449+5G>ASNV Uncertain significance 201773 rs370840449 X:153609167-153609167 X:154380807-154380807
48 EMD NM_000117.2(EMD):c.608G>A (p.Arg203His)SNV Uncertain significance 201775 rs144842093 X:153609400-153609400 X:154381040-154381040
49 EMD NM_000117.2(EMD):c.610C>T (p.Arg204Cys)SNV Uncertain significance 201776 rs782299893 X:153609402-153609402 X:154381042-154381042
50 EMD NM_000117.2(EMD):c.671C>T (p.Pro224Leu)SNV Uncertain significance 201777 rs782559230 X:153609463-153609463 X:154381103-154381103

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

73
# 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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
2
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12.89 LMNB1 LMNA LEMD3 EMD BANF1
3
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12.49 LMNB1 LMNA LEMD3 EMD BANF1
4
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12.28 LMNB1 LMNA LEMD3 EMD BANF1
5 12.19 LMNB2 LMNB1 LMNA EMD
6 11.9 LMNB2 LMNB1 LMNA
7
Show member pathways
11.9 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
8
Show member pathways
11.87 LMNB2 LMNB1 LMNA
9
Show member pathways
11.22 LMNB2 LMNB1 LMNA
10
Show member pathways
11.16 LMNB1 LMNA
11
Show member pathways
10.54 LMNB1 LMNA LEMD3 EMD BANF1

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 nucleus GO:0005634 10.22 TMEM43 TMEM201 SYNE2 SYNE1 SUN2 SUN1
2 nuclear inner membrane GO:0005637 9.76 TMEM43 TMEM201 SUN2 SUN1 LMNB2 LMNB1
3 integral component of nuclear inner membrane GO:0005639 9.65 TMEM43 TMEM201 SUN2 SUN1 LEMD3
4 nuclear membrane GO:0031965 9.65 TMEM201 SYNE2 SYNE1 SUN2 SUN1 LMNB2
5 intermediate filament GO:0005882 9.63 LMNB2 LMNB1 LMNA
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
7 nuclear outer membrane GO:0005640 9.61 SYNE2 SYNE1 EMD
8 lamin filament GO:0005638 9.54 LMNB2 LMNB1 LMNA
9 nuclear envelope GO:0005635 9.32 SYNE2 SYNE1 SUN2 SUN1 LMO7 LMNB2

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 nucleus organization GO:0006997 9.63 SYNE1 LMNA LEMD3
2 centrosome localization GO:0051642 9.58 SYNE2 SUN2 SUN1
3 nuclear migration GO:0007097 9.54 TMEM201 SYNE2 SUN2
4 mitotic nuclear envelope reassembly GO:0007084 9.5 LMNA EMD BANF1
5 nuclear migration along microfilament GO:0031022 9.43 SYNE2 SUN2
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SYNE1 SUN2 SUN1
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SYNE2 SUN2 SUN1
8 nuclear envelope organization GO:0006998 9.26 SUN2 SUN1 LMNA LEMD3
9 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SYNE2 SYNE1 SUN2 SUN1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 TMEM201 SYNE2 SYNE1
2 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
3 lamin binding GO:0005521 8.92 TMEM201 SYNE1 SUN2 SUN1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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