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EDMD1
MCID: EMR017
MIFTS: 49

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

Name: Emery-Dreifuss Muscular Dystrophy 1, X-Linked 57 12 73 29 13 6
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 57 12 6
Edmd1 57 12 73
Emd1 57 12 73
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 57
Scapuloperoneal Syndrome, X-Linked, Formerly 57
Scapuloperoneal Syndrome, X-Linked 12
Scapuloperoneal Syndrome X-Linked 73
X-Edmd 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0070246
OMIM® 57 310300
OMIM Phenotypic Series 57 PS310300
MeSH 44 D020389
UMLS 71 C0751337
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Summaries for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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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) (Updated 05-Mar-2021)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as muscular dystrophy, tardive, dreifuss-emery type, with contractures, 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 Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and myopathy

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.

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

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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 77)
# Related Disease Score Top Affiliating Genes
1 x-linked emery-dreifuss muscular dystrophy 32.5 SYNE2 SYNE1 LMNA EMD ABCD1
2 myopathy, x-linked, with postural muscle atrophy 31.1 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
3 first-degree atrioventricular block 30.5 LMNA EMD
4 neuromuscular disease 30.3 SUN2 LMNB2 LMNA EMD
5 dilated cardiomyopathy 30.0 TMEM43 SYNE2 SYNE1 SUN2 LMO7 LMNA
6 myopathy 29.9 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
7 muscular dystrophy 28.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
8 emery-dreifuss muscular dystrophy 2, autosomal dominant 28.3 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
9 emery-dreifuss muscular dystrophy 25.2 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
10 scapuloperoneal myopathy, x-linked dominant 11.6
11 scapuloperoneal myopathy, myh7-related 11.5
12 cardiac conduction defect 10.6
13 atrial standstill 1 10.6
14 cardiac arrhythmia 10.5
15 sick sinus syndrome 10.5
16 lipomatosis, multiple 10.3
17 body mass index quantitative trait locus 11 10.3
18 muscular dystrophy, duchenne type 10.3
19 body mass index quantitative trait locus 9 10.3
20 body mass index quantitative trait locus 8 10.3
21 myopathy, proximal, with ophthalmoplegia 10.3
22 body mass index quantitative trait locus 4 10.3
23 body mass index quantitative trait locus 10 10.3
24 body mass index quantitative trait locus 7 10.3
25 body mass index quantitative trait locus 12 10.3
26 body mass index quantitative trait locus 14 10.3
27 body mass index quantitative trait locus 18 10.3
28 body mass index quantitative trait locus 19 10.3
29 sinoatrial node disease 10.3
30 pleomorphic lipoma 10.3
31 heart conduction disease 10.3
32 limb-girdle muscular dystrophy 10.3
33 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TMEM43 LMNA
34 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TMEM43 LMNA
35 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TMEM43 LMNA
36 arrhythmogenic right ventricular dysplasia, familial, 5 10.2 TMEM43 EMD
37 left bundle branch hemiblock 10.2 TMEM43 LMNA
38 emerinopathy 10.2 SUN2 LMNA EMD
39 progeroid syndrome 10.2 LMNA BANF1
40 arrhythmogenic right ventricular dysplasia, familial, 9 10.2 TMEM43 LMNA
41 familial partial lipodystrophy 10.1 LMNA EMD BANF1
42 mandibuloacral dysplasia with type a lipodystrophy 10.1 ZMPSTE24 LMNA
43 acroosteolysis 10.1 ZMPSTE24 LMNA
44 muscular disease 10.1 LMNB2 LMNA EMD
45 atrioventricular block 10.1
46 syncope 10.1
47 acquired generalized lipodystrophy 10.1 ZMPSTE24 LMNA
48 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 ZMPSTE24 SYNE2 LMNA
49 complete generalized lipodystrophy 10.0 ZMPSTE24 LMNA
50 melorheostosis 10.0 LEMD3 EMD

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

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.2 ABCD1 BCLAF1 LEMD2 LEMD3 LEXM LMNA
2 cellular MP:0005384 10.18 BCLAF1 EMD LEMD2 LEMD3 LEXM LMNA
3 muscle MP:0005369 10 EMD LEMD2 LMNA LMNB1 LMNB2 LMO7
4 nervous system MP:0003631 9.93 ABCD1 LEMD2 LMNA LMNB1 LMNB2 LMO7
5 respiratory system MP:0005388 9.5 BCLAF1 LMNA LMNB1 LMNB2 LMO7 SYNE1
6 vision/eye MP:0005391 9.23 ABCD1 BCLAF1 LEMD2 LMNA LMO7 SUN1
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Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

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

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

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

40
Heart
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Publications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

(show top 50) (show all 62)
# 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. 57 6
10382909 1999
2
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 57 6
10323252 1999
3
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. 57 6
9536090 1998
4
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. 6 57
8655156 1996
5
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 6 57
8595406 1995
6
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 57 6
7894480 1994
7
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 57
17761684 2007
8
Limb-girdle muscular dystrophy due to emerin gene mutations. 57
17620497 2007
9
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? 57
17536044 2007
10
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. 57
11159939 2001
11
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. 57
10377322 1999
12
Mutation analysis in Emery-Dreifuss muscular dystrophy. 57
10428430 1999
13
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. 57
10480214 1999
14
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. 57
10382910 1999
15
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. 57
9949197 1999
16
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. 57
9361031 1997
17
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. 57
10732816 1997
18
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 57
9195226 1997
19
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. 57
8776595 1996
20
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 57
8589715 1996
21
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 57
8595407 1995
22
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 57
7919974 1994
23
Emery-Dreifuss syndrome: genetic and clinical varieties. 57
8042665 1994
24
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. 57
8445613 1993
25
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 57
1998333 1991
26
Emery-Dreifuss syndrome. 57
2685312 1989
27
Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity. 57
2924429 1989
28
Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. 57
3417305 1988
29
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). 57
3319295 1987
30
A linkage study of Emery-Dreifuss muscular dystrophy. 57
3466853 1986
31
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. 57
3100805 1986
32
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. 57
2879931 1986
33
Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. 57
3736581 1986
34
Emery-Dreifuss syndrome. 57
3701378 1986
35
Emery-Dreifuss muscular dystrophy. 57
6707817 1984
36
Scapuloperoneal syndrome. Report on two families with neurogenic muscular atrophy. 57
7310437 1981
37
Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 57
7294729 1981
38
Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease. 57
6782879 1980
39
Emery-Dreifuss muscular dystrophy. 57
426473 1979
40
Fibre type disproportion in the rigid spine syndrome. 57
579444 1977
41
Rigid spine syndrome. A type I fiber myopathy. 57
836180 1977
42
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 57
1178008 1975
43
Letter: Serum-creatine-kinase levels in carriers of Becker muscular dystrophy. 57
4138389 1974
44
[A new kinship with X-chromosomal benign progressive muscular dystrophy and early contractures (Emery-Dreifuss)]. 57
4449913 1974
45
Rigid spine syndrome: a muscle syndrome in search of a name. 57
4697975 1973
46
Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. 57
4682070 1973
47
X-linked scapuloperoneal syndrome. 57
4113956 1972
48
[New type of recessive X-linked muscular dystrophy: scapulo-humeral-distal muscular dystrophy with early contractures and cardiac arrhythmias]. 57
5082100 1972
49
[New data on the genetics and classification of muscular dystrophies]. 57
4567289 1972
50
Unusual type of benign x-linked muscular dystrophy. 57
5969090 1966
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Variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

6 (show top 50) (show all 457)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMD EMD, 2-BP DEL, NT564 Deletion Pathogenic 11171
2 EMD EMD, 29-BP DEL, NT113 Deletion Pathogenic 11173
3 EMD EMD, 2-BP INS, NT198 Insertion Pathogenic 11174
4 EMD EMD, IVSAS, A-G, -3, 214-BP INS Insertion Pathogenic 11175
5 EMD NM_000117.2(EMD):c.130C>T (p.Gln44Ter) SNV Pathogenic 11176 rs132630262 X:153608097-153608097 X:154379737-154379737
6 EMD EMD, 1-BP DEL, FS236TER Deletion Pathogenic 11177
7 EMD NM_000117.2(EMD):c.547C>A (p.Pro183Thr) SNV Pathogenic 11179 rs104894806 X:153609339-153609339 X:154380979-154380979
8 EMD EMD, 5-BP DEL, NT631 Deletion Pathogenic 11180
9 EMD NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) SNV Pathogenic 409877 rs1060502612 X:153608090-153608090 X:154379730-154379730
10 EMD NC_000023.10:g.(?_154379237)_(154381523_?)del Deletion Pathogenic 433172 X:154379237-154381523
11 EMD NM_000117.2(EMD):c.674_678del (p.Leu225fs) Deletion Pathogenic 433169 rs1557182692 X:153609466-153609470 X:154381106-154381110
12 EMD NM_000117.2(EMD):c.135dup (p.Arg46fs) Duplication Pathogenic 531731 rs1557182301 X:153608100-153608101 X:154379740-154379741
13 EMD NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) Microsatellite Pathogenic 531732 rs1557182364 X:153608328-153608329 X:154379968-154379969
14 EMD NM_000117.2(EMD):c.430G>T (p.Glu144Ter) SNV Pathogenic 462824 rs1557182560 X:153609143-153609143 X:154380783-154380783
15 EMD NM_000117.2(EMD):c.581_582del (p.Ser194fs) Deletion Pathogenic 531738 rs1557182654 X:153609373-153609374 X:154381013-154381014
16 EMD NM_000117.2(EMD):c.484C>T (p.Gln162Ter) SNV Pathogenic 498989 rs1557182611 X:153609276-153609276 X:154380916-154380916
17 EMD NM_000117.2(EMD):c.101dup (p.Tyr34Ter) Duplication Pathogenic 617762 rs1569552079 X:153608067-153608068 X:154379707-154379708
18 EMD NM_000117.2(EMD):c.600G>A (p.Trp200Ter) SNV Pathogenic 433174 rs1557182661 X:153609392-153609392 X:154381032-154381032
19 EMD NM_000117.2(EMD):c.153dup (p.Ser52fs) Duplication Pathogenic 234991 rs876661345 X:153608114-153608115 X:154379754-154379755
20 EMD NM_000117.2(EMD):c.621del (p.Pro208fs) Deletion Pathogenic 433171 rs1557182670 X:153609412-153609412 X:154381052-154381052
21 EMD NM_000117.2(EMD):c.607del (p.Arg203fs) Deletion Pathogenic 582473 rs1569552106 X:153609397-153609397 X:154381037-154381037
22 EMD NC_000023.10:g.(?_153607825)_(153609577_?)del Deletion Pathogenic 583878 X:153607825-153609577
23 EMD NC_000023.10:g.(?_153609093)_(153609182_?)del Deletion Pathogenic 830683 X:153609093-153609182
24 EMD NM_000117.2(EMD):c.187+1G>T SNV Pathogenic 201772 rs794729010 X:153608155-153608155 X:154379795-154379795
25 EMD NM_000117.3(EMD):c.475_476del (p.Ser159fs) Deletion Pathogenic 839321 X:153609267-153609268 X:154380907-154380908
26 EMD NM_000117.3(EMD):c.83-2A>C SNV Pathogenic 857566 X:153608048-153608048 X:154379688-154379688
27 EMD NM_000117.3(EMD):c.619del (p.Arg207fs) Deletion Pathogenic 942643 X:153609410-153609410 X:154381050-154381050
28 EMD NM_000117.2(EMD):c.251_255del (p.Leu84fs) Deletion Pathogenic 289486 rs782452523 X:153608362-153608366 X:154380002-154380006
29 EMD NM_000117.2(EMD):c.548C>A (p.Pro183His) SNV Pathogenic 11178 rs104894805 X:153609340-153609340 X:154380980-154380980
30 EMD NM_000117.3(EMD):c.82+1G>T SNV Pathogenic 433166 rs1557182214 X:153607927-153607927 X:154379567-154379567
31 EMD NM_000117.2(EMD):c.60del (p.Asn20fs) Deletion Pathogenic 280697 rs886041854 X:153607904-153607904 X:154379544-154379544
32 EMD NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) SNV Pathogenic 462823 rs782011714 X:153607856-153607856 X:154379496-154379496
33 EMD NM_000117.2(EMD):c.1A>G (p.Met1Val) SNV Pathogenic 11172 rs267606782 X:153607845-153607845 X:154379485-154379485
34 ABCD1 NC_000023.10:g.(?_152990712)_(153650075_?)del Deletion Pathogenic 665050 X:152990712-153650075
35 EMD NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) SNV Pathogenic 804132 rs782011714 X:153607856-153607856 X:154379496-154379496
36 EMD NM_000117.3(EMD):c.77dup (p.Val27fs) Duplication Pathogenic 859127 X:153607920-153607921 X:154379560-154379561
37 EMD NM_000117.2(EMD):c.3G>A (p.Met1Ile) SNV Pathogenic 281087 rs886044771 X:153607847-153607847 X:154379487-154379487
38 EMD NM_000117.3(EMD):c.266-2A>G SNV Pathogenic 163403 rs727503036 X:153608592-153608592 X:154380232-154380232
39 EMD NM_000117.3(EMD):c.82+1G>A SNV Likely pathogenic 974879 X:153607927-153607927 X:154379567-154379567
40 EMD NM_000117.2(EMD):c.16del (p.Asp6fs) Deletion Likely pathogenic 617592 rs1569552076 X:153607860-153607860 X:154379500-154379500
41 SUN1 NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr) SNV Uncertain significance 639158 rs778427452 7:881642-881642 7:842005-842005
42 SUN2 NM_015374.3(SUN2):c.854G>A (p.Arg285Gln) SNV Uncertain significance 639248 rs760591672 22:39138520-39138520 22:38742515-38742515
43 SUN1 NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn) SNV Uncertain significance 639362 rs200505697 7:872190-872190 7:832553-832553
44 SUN1 NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr) SNV Uncertain significance 639580 rs1402655652 7:893064-893064 7:853427-853427
45 SUN2 NM_015374.3(SUN2):c.286+3G>C SNV Uncertain significance 639766 rs539528181 22:39147212-39147212 22:38751207-38751207
46 SUN1 NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe) SNV Uncertain significance 641054 rs779987779 7:893104-893104 7:853467-853467
47 SUN2 NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs) Duplication Uncertain significance 641394 rs1284194276 22:39135361-39135362 22:38739356-38739357
48 L1CAM NC_000023.10:g.(?_153128108)_(153609567_?)dup Duplication Uncertain significance 642036 X:153128108-153609567
49 SUN1 NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met) SNV Uncertain significance 642395 rs1221855051 7:912881-912881 7:873244-873244
50 SUN1 NM_001130965.3(SUN1):c.720G>A (p.Thr240=) SNV Uncertain significance 642775 rs186121469 7:891082-891082 7:851445-851445

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Transport of the SLBP independent Mature mRNA 65
Show member pathways
 12.93 LMNB1 LMNA LEMD3 LEMD2 EMD BANF1
2
Cell Cycle, Mitotic 65
Show member pathways
 12.81 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
3
Mitotic Metaphase and Anaphase 65
Show member pathways
 12.52 LMNB1 LMNA LEMD3 LEMD2 EMD BANF1
4
Mitotic Prophase 65
Show member pathways
 12.36 LMNB1 LMNA LEMD3 LEMD2 EMD BANF1
5
Cytoskeletal Signaling 4
12.19 LMNB2 LMNB1 LMNA EMD
6
Meiosis 65
Show member pathways
 12.1 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
7
Apoptosis and survival Caspase cascade 23
Show member pathways
 11.89 LMNB2 LMNB1 LMNA
8
Granzyme Pathway 63
Show member pathways
 11.27 LMNB2 LMNB1 LMNA
9
Initiation of Nuclear Envelope Reformation 65
Show member pathways
 10.62 LMNB1 LMNA LEMD3 LEMD2 EMD BANF1
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GO Terms for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
2 nucleus GO:0005634 10.33 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
3 integral component of membrane GO:0016021 10.27 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
4 nuclear inner membrane GO:0005637 9.85 ZMPSTE24 TMEM43 TMEM201 SUN2 SUN1 LMNB2
5 integral component of nuclear inner membrane GO:0005639 9.73 TMEM43 TMEM201 SUN2 SUN1 LEMD3 LEMD2
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.72 SYNE4 SYNE2 SYNE1 SUN2 SUN1
7 nuclear membrane GO:0031965 9.7 TMEM201 SYNE2 SYNE1 SUN2 SUN1 LMNB2
8 nuclear outer membrane GO:0005640 9.67 SYNE4 SYNE2 SYNE1 EMD
9 spindle pole centrosome GO:0031616 9.51 TMEM201 EMD
10 cortical endoplasmic reticulum GO:0032541 9.48 TMEM201 EMD
11 nuclear envelope GO:0005635 9.44 ZMPSTE24 TMEM201 SYNE4 SYNE2 SYNE1 SUN2
12 lamin filament GO:0005638 9.43 LMNB1 LMNA

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 9.62 ZMPSTE24 SYNE1 LMNA LEMD3
2 nuclear migration GO:0007097 9.58 TMEM201 SYNE2 SUN2
3 mitotic nuclear envelope reassembly GO:0007084 9.54 LMNA EMD BANF1
4 regulation of intracellular signal transduction GO:1902531 9.48 LEMD3 LEMD2
5 nuclear membrane organization GO:0071763 9.46 TMEM43 EMD
6 nuclear migration along microfilament GO:0031022 9.43 SYNE2 SUN2
7 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SYNE1 SUN2 SUN1
8 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SYNE2 SUN2 SUN1
9 centrosome localization GO:0051642 9.26 TMEM201 SYNE2 SUN2 SUN1
10 nuclear envelope organization GO:0006998 9.17 ZMPSTE24 TMEM201 SUN2 SUN1 LMNA LEMD3

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 protein binding GO:0005515 9.91 ZMPSTE24 TMEM43 TMEM201 SYNE4 SYNE2 SYNE1
2 protein membrane anchor GO:0043495 9.16 SUN2 SUN1
3 lamin binding GO:0005521 8.92 TMEM201 SYNE1 SUN2 SUN1
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Sources for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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