EDMD4
MCID: EMR014
MIFTS: 39

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 56 12 73 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 56 12 73
Edmd4 56 12 73
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 39
Emery-Dreifuss Muscular Dystrophy 4 71
Emd4 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
two unrelated patients have been reported (last curated july 2019)


HPO:

31
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070249
OMIM 56 612998
OMIM Phenotypic Series 56 PS310300
MeSH 43 D020389
MedGen 41 C2751807
UMLS 71 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 4, autosomal dominant: 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.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 4 with variable features, is related to arthrogryposis multiplex congenita, myogenic type and familial isolated arrhythmogenic ventricular dysplasia, left dominant form. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways is Initiation of Nuclear Envelope Reformation. Related phenotypes are elevated serum creatine kinase and muscular dystrophy

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.

More information from OMIM: 612998 PS310300

Related Diseases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis multiplex congenita, myogenic type 10.3 SYNE1 ESR1
2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TMEM43 LMNA
3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TMEM43 LMNA
4 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
5 emerinopathy 10.2 LMNA EMD
6 arrhythmogenic right ventricular dysplasia, familial, 5 10.2 TMEM43 EMD
7 first-degree atrioventricular block 10.1 LMNA EMD
8 left bundle branch hemiblock 10.1 TMEM43 LMNA
9 lipodystrophy, familial partial, type 5 10.1 LMNA EMD
10 osteopoikilosis 10.0 LMNA EMD
11 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
12 greenberg dysplasia 10.0 SYNE1 LMNA EMD
13 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 SYNE1 LMNA EMD
14 buschke-ollendorff syndrome 10.0 SYNE1 LMNA EMD
15 pelger-huet anomaly 10.0 SYNE1 LMNA EMD
16 laminopathy 10.0 SYNE2 LMNA EMD
17 cardiomyopathy, dilated, 1h 9.8 TMEM43 SYNE1 LMNA EMD
18 reducing body myopathy 1a 9.8 FHL1 EMD
19 senile ectropion 9.8 LMNA FHL1
20 hutchinson-gilford progeria syndrome 9.8 SYNE2 SYNE1 LMNA EMD
21 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.8 TMEM43 TMEM214 SYNE2 SYNE1
22 arrhythmogenic right ventricular cardiomyopathy 9.7 TMEM43 LMNA EMD
23 familial partial lipodystrophy 9.7 LMNA EMD
24 spinocerebellar ataxia, autosomal recessive 8 9.7 SYNE2 SYNE1-AS1 SYNE1 ESR1 EMD
25 long qt syndrome 9.7 TMEM43 SYNE2 LMNA
26 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.6 TMEM43 SYNE2 SYNE1 LMNA EMD
27 charcot-marie-tooth disease, axonal, type 2b1 9.6 TMEM43 SYNE2 SYNE1 LMNA EMD
28 emery-dreifuss muscular dystrophy 1, x-linked 9.6 TMEM43 SYNE2 SYNE1 LMNA EMD
29 cardiomyopathy, dilated, 1a 9.6 TMEM43 SYNE2 SYNE1 LMNA EMD
30 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 TMEM43 SYNE2 SYNE1 LMNA EMD
31 dilated cardiomyopathy 9.4 TMEM43 SYNE2 SYNE1 LMNA EMD
32 x-linked emery-dreifuss muscular dystrophy 9.2 SYNE2 SYNE1 LMNA FHL1 EMD
33 hypertrophic cardiomyopathy 9.1 TMEM43 LMNA FHL1 EMD
34 myopathy 9.0 TMEM43 SYNE2 SYNE1 LMNA FHL1 EMD
35 muscular dystrophy, congenital, lmna-related 8.9 TMEM43 SYNE2 SYNE1 LMNA FHL1 EMD
36 muscular dystrophy 8.8 TMEM43 SYNE2 SYNE1 LMNA FHL1 ESR1
37 emery-dreifuss muscular dystrophy 5, autosomal dominant 8.6 TMEM43 TMEM214 SYNE2 SYNE1 LMNA FHL1
38 myopathy, x-linked, with postural muscle atrophy 8.6 TMEM43 TMEM214 SYNE2 SYNE1 LMNA FHL1
39 emery-dreifuss muscular dystrophy 8.6 TMEM43 SYNE2 SYNE1-AS1 SYNE1 LMNA FHL1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 muscular dystrophy 31 HP:0003560
3 proximal amyotrophy 31 HP:0007126
4 proximal muscle weakness 31 HP:0003701
5 neck muscle weakness 31 HP:0000467
6 ventricular septal hypertrophy 31 HP:0005144

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
neck muscle weakness
neck muscle atrophy

Muscle Soft Tissue:
muscle biopsy shows dystrophic pattern
muscle weakness and atrophy, proximal

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
ventricular and septal hypertrophy
mild diastolic dysfunction

Clinical features from OMIM:

612998

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 EMD ESR1 FHL1 LMNA SYNE1 SYNE2
2 muscle MP:0005369 9.1 EMD ESR1 FHL1 LMNA SYNE1 SYNE2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 29 SYNE1

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Articles related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Title Authors PMID Year
1
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 6 56
17761684 2007
2
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
3
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
4
Properties of a Bacteriocin Produced by Bacillus subtilis EMD4 Isolated from Ganjang (Soy Sauce). 61
26017225 2015
5
Characterization of antinociceptive potency of endomorphin-2 derivatives with unnatural amino acids in rats. 61
22982723 2012

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

6 (show top 50) (show all 1158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)SNV Pathogenic 522959 rs1554451078 6:152646309-152646309 6:152325174-152325174
2 SYNE1 NC_000006.12:g.(?_152122416)_(153426916_?)deldeletion Pathogenic 538429 6:152443551-153748051 6:152122416-153426916
3 SYNE1 NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)SNV Pathogenic 571581 rs746328978 6:152629755-152629755 6:152308620-152308620
4 SYNE1 NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs)short repeat Pathogenic 568019 rs1564367104 6:152804350-152804351 6:152483215-152483216
5 SYNE1 NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)SNV Pathogenic 650439 6:152473185-152473185 6:152152050-152152050
6 SYNE1 NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)SNV Pathogenic 662396 6:152751793-152751793 6:152430658-152430658
7 SYNE1 NM_182961.4(SYNE1):c.23461-1G>ASNV Pathogenic 638338 6:152497696-152497696 6:152176561-152176561
8 SYNE1 NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)SNV Pathogenic 650230 6:152831358-152831358 6:152510223-152510223
9 SYNE1 NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)SNV Pathogenic 843446 6:152621810-152621810 6:152300675-152300675
10 SYNE1 NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)SNV Pathogenic 863071 6:152779924-152779924 6:152458789-152458789
11 SYNE1 NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)SNV Pathogenic 915366 6:152697632-152697632 6:152376497-152376497
12 SYNE1 NM_182961.4(SYNE1):c.15918-12A>GSNV Pathogenic 2326 rs606231134 6:152643033-152643033 6:152321898-152321898
13 SYNE1 NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)SNV Pathogenic 2332 rs119103246 6:152473122-152473122 6:152151987-152151987
14 SYNE1 NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)SNV Pathogenic 379571 rs910956017 6:152590313-152590313 6:152269178-152269178
15 SYNE1 NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)SNV Likely pathogenic 208449 rs746438011 6:152751807-152751807 6:152430672-152430672
16 SYNE1 NM_182961.4(SYNE1):c.6723+1G>CSNV Likely pathogenic 839686 6:152728148-152728148 6:152407013-152407013
17 SYNE1 NM_182961.4(SYNE1):c.19260+2T>CSNV Likely pathogenic 650466 6:152576724-152576724 6:152255589-152255589
18 SYNE1 NM_182961.4(SYNE1):c.10608+1G>CSNV Likely pathogenic 659334 6:152679507-152679507 6:152358372-152358372
19 SYNE1 NM_182961.4(SYNE1):c.4975_4976+8deldeletion Likely pathogenic 655334 6:152749332-152749341 6:152428197-152428206
20 SYNE1 NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)SNV Conflicting interpretations of pathogenicity 779982 6:152457756-152457756 6:152136621-152136621
21 SYNE1 NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)SNV Conflicting interpretations of pathogenicity 758946 6:152751758-152751758 6:152430623-152430623
22 SYNE1 NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=)SNV Conflicting interpretations of pathogenicity 719260 6:152462354-152462354 6:152141219-152141219
23 SYNE1 NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)SNV Conflicting interpretations of pathogenicity 538414 rs767628258 6:152477104-152477104 6:152155969-152155969
24 SYNE1 NM_182961.4(SYNE1):c.24977-1719A>GSNV Conflicting interpretations of pathogenicity 662469 6:152466619-152466619 6:152145484-152145484
25 SYNE1 NM_182961.4(SYNE1):c.336C>T (p.Thr112=)SNV Conflicting interpretations of pathogenicity 680885 6:152832212-152832212 6:152511077-152511077
26 SYNE1 NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)SNV Conflicting interpretations of pathogenicity 872150 6:152602978-152602978 6:152281843-152281843
27 SYNE1 NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)SNV Conflicting interpretations of pathogenicity 906227 6:152469278-152469278 6:152148143-152148143
28 SYNE1 NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)SNV Conflicting interpretations of pathogenicity 907226 6:152469359-152469359 6:152148224-152148224
29 SYNE1 NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)SNV Conflicting interpretations of pathogenicity 907227 6:152469373-152469373 6:152148238-152148238
30 SYNE1 NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)SNV Conflicting interpretations of pathogenicity 905438 6:152651787-152651787 6:152330652-152330652
31 SYNE1 NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys)SNV Conflicting interpretations of pathogenicity 905187 6:152615171-152615171 6:152294036-152294036
32 SYNE1 NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)SNV Conflicting interpretations of pathogenicity 907775 6:152623156-152623156 6:152302021-152302021
33 SYNE1 NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)SNV Conflicting interpretations of pathogenicity 903732 6:152665313-152665313 6:152344178-152344178
34 SYNE1 NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)SNV Conflicting interpretations of pathogenicity 906161 6:152671780-152671780 6:152350645-152350645
35 SYNE1 NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)SNV Conflicting interpretations of pathogenicity 903813 6:152673265-152673265 6:152352130-152352130
36 SYNE1 NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)SNV Conflicting interpretations of pathogenicity 906283 6:152683315-152683315 6:152362180-152362180
37 SYNE1 NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)SNV Conflicting interpretations of pathogenicity 904859 6:152708232-152708232 6:152387097-152387097
38 SYNE1 NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)SNV Conflicting interpretations of pathogenicity 904393 6:152751669-152751669 6:152430534-152430534
39 SYNE1 NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)SNV Conflicting interpretations of pathogenicity 2334 rs119103248 6:152461162-152461162 6:152140027-152140027
40 SYNE1 NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)SNV Conflicting interpretations of pathogenicity 76197 rs267600861 6:152469504-152469504 6:152148369-152148369
41 SYNE1 NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)SNV Conflicting interpretations of pathogenicity 76198 rs267600862 6:152476160-152476160 6:152155025-152155025
42 SYNE1 NM_182961.4(SYNE1):c.4461+15C>TSNV Conflicting interpretations of pathogenicity 905188 6:152754915-152754915 6:152433780-152433780
43 SYNE1 NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)SNV Conflicting interpretations of pathogenicity 907657 6:152737906-152737906 6:152416771-152416771
44 SYNE1 NM_182961.4(SYNE1):c.581+7A>GSNV Conflicting interpretations of pathogenicity 904725 6:152831321-152831321 6:152510186-152510186
45 SYNE1 NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)SNV Conflicting interpretations of pathogenicity 906834 6:152770691-152770691 6:152449556-152449556
46 SYNE1 NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)SNV Conflicting interpretations of pathogenicity 92125 rs180727534 6:152671811-152671811 6:152350676-152350676
47 SYNE1 NM_182961.4(SYNE1):c.3669+4C>GSNV Conflicting interpretations of pathogenicity 130440 rs376511242 6:152768589-152768589 6:152447454-152447454
48 SYNE1 NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)SNV Conflicting interpretations of pathogenicity 130454 rs150912982 6:152688435-152688435 6:152367300-152367300
49 SYNE1 NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)SNV Conflicting interpretations of pathogenicity 193777 rs147143947 6:152565729-152565729 6:152244594-152244594
50 SYNE1 NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)SNV Conflicting interpretations of pathogenicity 194147 rs138787771 6:152501416-152501416 6:152180281-152180281

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 SYNE1 p.Arg8095His VAR_062974 rs119103246
2 SYNE1 p.Glu8461Lys VAR_062976 rs119103248

Expression for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.14 LMNA EMD

GO Terms for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.07 TMEM43 SYNE2 SYNE1 LMNA FHL1 FAM169A
2 nuclear membrane GO:0031965 9.56 SYNE2 SYNE1 LMNA EMD
3 nuclear inner membrane GO:0005637 9.33 TMEM43 FAM169A EMD
4 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.32 SYNE2 SYNE1
5 nuclear outer membrane GO:0005640 9.13 SYNE2 SYNE1 EMD
6 nuclear envelope GO:0005635 9.02 SYNE2 SYNE1 LMNA FAM169A EMD

Biological processes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.16 SYNE1 LMNA
2 mitotic nuclear envelope reassembly GO:0007084 8.96 LMNA EMD
3 cytoskeletal anchoring at nuclear membrane GO:0090286 8.62 SYNE2 SYNE1

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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
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44 MESH via Orphanet
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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