EDMD4
MCID: EMR014
MIFTS: 29

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 57 12 74 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 57 12 74
Edmd4 57 12 74
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 40
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12
Emery-Dreifuss Muscular Dystrophy 4 72
Emd4 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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
MeSH 44 D020389
MedGen 42 C2751807
UMLS 72 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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 spinocerebellar ataxia, autosomal recessive 8. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Related phenotypes are proximal muscle weakness 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 Emery-Dreifuss Muscular Dystrophy, Dominant Type

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 9.1 SYNE1-AS1 SYNE1

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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 32 HP:0003701
2 muscular dystrophy 32 HP:0003560
3 neck muscle weakness 32 HP:0000467
4 proximal amyotrophy 32 HP:0007126
5 elevated serum creatine kinase 32 HP:0003236
6 ventricular septal hypertrophy 32 HP:0005144

Symptoms via clinical synopsis from OMIM:

57
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

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. 8 71
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. 71
25313375 2014
3
Emery-Dreifuss Muscular Dystrophy 71
20301609 2004
4
Properties of a Bacteriocin Produced by Bacillus subtilis EMD4 Isolated from Ganjang (Soy Sauce). 38
26017225 2015
5
Characterization of antinociceptive potency of endomorphin-2 derivatives with unnatural amino acids in rats. 38
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 617)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 NM_033071.3(SYNE1): c.18469C> T (p.Gln6157Ter) single nucleotide variant Pathogenic rs910956017 6:152590313-152590313 6:152269178-152269178
2 SYNE1 NC_000006.11: g.(?_152443551)_(153748051_?)del deletion Pathogenic 6:152443551-153748051 6:152122416-153426916
3 SYNE1 NM_033071.3(SYNE1): c.15705-12A> G single nucleotide variant Pathogenic rs606231134 6:152643033-152643033 6:152321898-152321898
4 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 6:152473122-152473122 6:152151987-152151987
5 SYNE1 NM_033071.3(SYNE1): c.17002C> T (p.Gln5668Ter) single nucleotide variant Pathogenic 6:152629755-152629755 6:152308620-152308620
6 SYNE1 NM_033071.3(SYNE1): c.1238_1239CT[1] (p.Leu414fs) short repeat Pathogenic 6:152804350-152804351 6:152483215-152483216
7 SYNE1 NM_033071.3(SYNE1): c.24008C> G (p.Ser8003Ter) single nucleotide variant Pathogenic 6:152473185-152473185 6:152152050-152152050
8 SYNE1 NM_033071.3(SYNE1): c.23248-1G> A single nucleotide variant Pathogenic 6:152497696-152497696 6:152176561-152176561
9 SYNE1 NM_033071.3(SYNE1): c.4534G> T (p.Glu1512Ter) single nucleotide variant Pathogenic 6:152751793-152751793 6:152430658-152430658
10 SYNE1 NM_033071.3(SYNE1): c.572T> A (p.Leu191Ter) single nucleotide variant Pathogenic 6:152831358-152831358 6:152510223-152510223
11 SYNE1 NM_033071.3(SYNE1): c.19047+2T> C single nucleotide variant Likely pathogenic 6:152576724-152576724 6:152255589-152255589
12 SYNE1 NM_033071.3(SYNE1): c.10629+1G> C single nucleotide variant Likely pathogenic 6:152679507-152679507 6:152358372-152358372
13 SYNE1 NM_033071.3(SYNE1): c.4996_4997+8delAGGTGAGCAG deletion Likely pathogenic
14 SYNE1 NM_033071.3(SYNE1): c.4520T> A (p.Ile1507Asn) single nucleotide variant Likely pathogenic rs746438011 6:152751807-152751807 6:152430672-152430672
15 SYNE1 NM_033071.3(SYNE1): c.15354G> A (p.Trp5118Ter) single nucleotide variant Likely pathogenic rs1554451078 6:152646309-152646309 6:152325174-152325174
16 SYNE1 NM_033071.3(SYNE1): c.24942G> A (p.Thr8314=) single nucleotide variant Conflicting interpretations of pathogenicity rs377302991 6:152464791-152464791 6:152143656-152143656
17 SYNE1 NM_033071.3(SYNE1): c.24832+4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs370143116 6:152466618-152466618 6:152145483-152145483
18 SYNE1 NM_033071.3(SYNE1): c.24420C> T (p.Ile8140=) single nucleotide variant Conflicting interpretations of pathogenicity rs201078523 6:152470621-152470621 6:152149486-152149486
19 SYNE1 NM_033071.3(SYNE1): c.23193A> G (p.Lys7731=) single nucleotide variant Conflicting interpretations of pathogenicity rs780485635 6:152501325-152501325 6:152180190-152180190
20 SYNE1 NM_033071.3(SYNE1): c.1311C> T (p.Thr437=) single nucleotide variant Conflicting interpretations of pathogenicity rs755709525 6:152804280-152804280 6:152483145-152483145
21 SYNE1 NM_033071.3(SYNE1): c.14412G> A (p.Thr4804=) single nucleotide variant Conflicting interpretations of pathogenicity rs140118684 6:152651195-152651195 6:152330060-152330060
22 SYNE1 NM_033071.3(SYNE1): c.1653+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs758756977 6:152792726-152792726 6:152471591-152471591
23 SYNE1 NM_033071.3(SYNE1): c.16962C> T (p.Thr5654=) single nucleotide variant Conflicting interpretations of pathogenicity rs200002217 6:152630997-152630997 6:152309862-152309862
24 SYNE1 NM_033071.3(SYNE1): c.21568C> A (p.Arg7190=) single nucleotide variant Conflicting interpretations of pathogenicity rs138032057 6:152542057-152542057 6:152220922-152220922
25 SYNE1 NM_033071.3(SYNE1): c.8036T> C (p.Leu2679Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs147870520 6:152711577-152711577 6:152390442-152390442
26 SYNE1 NM_033071.3(SYNE1): c.13902C> T (p.Ala4634=) single nucleotide variant Conflicting interpretations of pathogenicity rs377739292 6:152651705-152651705 6:152330570-152330570
27 SYNE1 NM_033071.3(SYNE1): c.19814G> A (p.Arg6605Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs190673256 6:152560708-152560708 6:152239573-152239573
28 SYNE1 NM_033071.3(SYNE1): c.17614T> C (p.Ser5872Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs147998933 6:152615118-152615118 6:152293983-152293983
29 SYNE1 NM_033071.3(SYNE1): c.12149_12150delinsGT (p.Lys4050Ser) indel Conflicting interpretations of pathogenicity rs386707192 6:152658141-152658142 6:152337006-152337007
30 SYNE1 NM_033071.3(SYNE1): c.11142G> T (p.Lys3714Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs143070183 6:152674464-152674464 6:152353329-152353329
31 SYNE1 NM_033071.3(SYNE1): c.14050C> T (p.Leu4684Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs41301343 6:152651557-152651557 6:152330422-152330422
32 SYNE1 NM_033071.3(SYNE1): c.15124G> A (p.Val5042Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139170018 6:152647194-152647194 6:152326059-152326059
33 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 6:152762307-152762307 6:152441172-152441172
34 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 6:152749494-152749494 6:152428359-152428359
35 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 6:152746654-152746654 6:152425519-152425519
36 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 6:152746682-152746682 6:152425547-152425547
37 SYNE1 NM_033071.3(SYNE1): c.7668C> T (p.His2556=) single nucleotide variant Conflicting interpretations of pathogenicity rs113163375 6:152716716-152716716 6:152395581-152395581
38 SYNE1 NM_033071.3(SYNE1): c.7997C> A (p.Thr2666Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs117480635 6:152712440-152712440 6:152391305-152391305
39 SYNE1 NM_033071.3(SYNE1): c.9169C> G (p.Leu3057Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117360770 6:152697692-152697692 6:152376557-152376557
40 SYNE1 NM_033071.3(SYNE1): c.10058C> A (p.Ser3353Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150170988 6:152686090-152686090 6:152364955-152364955
41 SYNE1 NM_033071.3(SYNE1): c.10077T> C (p.Ser3359=) single nucleotide variant Conflicting interpretations of pathogenicity rs140861713 6:152686071-152686071 6:152364936-152364936
42 SYNE1 NM_033071.3(SYNE1): c.4905G> A (p.Glu1635=) single nucleotide variant Conflicting interpretations of pathogenicity rs886042121 6:152749432-152749432 6:152428297-152428297
43 SYNE1 NM_033071.3(SYNE1): c.24342C> T (p.Ile8114=) single nucleotide variant Conflicting interpretations of pathogenicity rs201799566 6:152470699-152470699 6:152149564-152149564
44 SYNE1 NM_033071.3(SYNE1): c.11173A> G (p.Thr3725Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144797744 6:152674433-152674433 6:152353298-152353298
45 SYNE1 NM_033071.3(SYNE1): c.21855C> T (p.Thr7285=) single nucleotide variant Conflicting interpretations of pathogenicity rs35686213 6:152539515-152539515 6:152218380-152218380
46 SYNE1 NM_033071.3(SYNE1): c.4052G> A (p.Arg1351Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144566713 6:152762383-152762383 6:152441248-152441248
47 SYNE1 NM_033071.3(SYNE1): c.7177A> G (p.Ile2393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147947903 6:152720832-152720832 6:152399697-152399697
48 SYNE1 NM_033071.3(SYNE1): c.12371del (p.Lys4124fs) deletion Conflicting interpretations of pathogenicity rs886042380 6:152655353-152655353 6:152334218-152334218
49 SYNE1 NM_033071.3(SYNE1): c.25712T> C (p.Leu8571Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139834542 6:152454556-152454556 6:152133421-152133421
50 SYNE1 NM_033071.3(SYNE1): c.8381C> T (p.Thr2794Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142676206 6:152708334-152708334 6:152387199-152387199

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

74
# Symbol AA change Variation ID SNP ID
1 SYNE1 p.Arg8095His VAR_062974 rs119103246
2 SYNE1 p.Val8387Leu VAR_062975 rs119103247
3 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

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

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 SYNE1 ESR1

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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