EDMD4
MCID: EMR014
MIFTS: 24

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 58 12 76 30 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 58 12 76
Edmd4 58 12 76
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 41
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12
Emery-Dreifuss Muscular Dystrophy 4 74
Emd4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

33
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070249
OMIM 58 612998
MeSH 45 D020389
MedGen 43 C2751807
UMLS 74 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include bone, and related phenotypes are proximal muscle weakness and neck muscle weakness

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

Description from OMIM: 612998

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 9.6 SYNE1 SYNE1-AS1

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 33 HP:0003701
2 neck muscle weakness 33 HP:0000467
3 muscular dystrophy 33 HP:0003560
4 proximal amyotrophy 33 HP:0007126
5 elevated serum creatine kinase 33 HP:0003236
6 ventricular septal hypertrophy 33 HP:0005144

Symptoms via clinical synopsis from OMIM:

58
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 30 SYNE1

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

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

42
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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

# Title Authors Year
1
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. ( 19542096 )
2009
2
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. ( 17761684 )
2007

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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

76
# 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

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

6 (show top 50) (show all 948)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 NM_033071.3(SYNE1): c.15705-12A> G single nucleotide variant Pathogenic rs606231134 GRCh38 Chromosome 6, 152321898: 152321898
2 SYNE1 NM_033071.3(SYNE1): c.15705-12A> G single nucleotide variant Pathogenic rs606231134 GRCh37 Chromosome 6, 152643033: 152643033
3 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh37 Chromosome 6, 152473122: 152473122
4 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh38 Chromosome 6, 152151987: 152151987
5 SYNE1 NM_033071.3(SYNE1): c.25015G> T (p.Val8339Leu) single nucleotide variant Pathogenic rs119103247 GRCh37 Chromosome 6, 152462425: 152462425
6 SYNE1 NM_033071.3(SYNE1): c.25015G> T (p.Val8339Leu) single nucleotide variant Pathogenic rs119103247 GRCh38 Chromosome 6, 152141290: 152141290
7 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh37 Chromosome 6, 152461162: 152461162
8 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh38 Chromosome 6, 152140027: 152140027
9 SYNE1 SYNE1, IVS136AS, A-G, -2 single nucleotide variant Pathogenic
10 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 GRCh37 Chromosome 6, 152469504: 152469504
11 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 GRCh38 Chromosome 6, 152148369: 152148369
12 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 NCBI36 Chromosome 6, 152511197: 152511197
13 SYNE1 NM_033071.3(SYNE1): c.9283G> A (p.Ala3095Thr) single nucleotide variant Uncertain significance rs398123005 GRCh37 Chromosome 6, 152697578: 152697578
14 SYNE1 NM_033071.3(SYNE1): c.9283G> A (p.Ala3095Thr) single nucleotide variant Uncertain significance rs398123005 GRCh38 Chromosome 6, 152376443: 152376443
15 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh37 Chromosome 6, 152784621: 152784621
16 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh38 Chromosome 6, 152463486: 152463486
17 SYNE1 NM_033071.3(SYNE1): c.10043T> C (p.Val3348Ala) single nucleotide variant Benign/Likely benign rs138693624 GRCh37 Chromosome 6, 152686105: 152686105
18 SYNE1 NM_033071.3(SYNE1): c.10043T> C (p.Val3348Ala) single nucleotide variant Benign/Likely benign rs138693624 GRCh38 Chromosome 6, 152364970: 152364970
19 SYNE1 NM_033071.3(SYNE1): c.10228G> A (p.Gly3410Ser) single nucleotide variant Benign/Likely benign rs116758271 GRCh37 Chromosome 6, 152683397: 152683397
20 SYNE1 NM_033071.3(SYNE1): c.10228G> A (p.Gly3410Ser) single nucleotide variant Benign/Likely benign rs116758271 GRCh38 Chromosome 6, 152362262: 152362262
21 SYNE1 NM_033071.3(SYNE1): c.10543T> C (p.Leu3515=) single nucleotide variant Benign/Likely benign rs62426382 GRCh37 Chromosome 6, 152679594: 152679594
22 SYNE1 NM_033071.3(SYNE1): c.10543T> C (p.Leu3515=) single nucleotide variant Benign/Likely benign rs62426382 GRCh38 Chromosome 6, 152358459: 152358459
23 SYNE1 NM_033071.3(SYNE1): c.10619G> A (p.Arg3540His) single nucleotide variant Benign/Likely benign rs145911138 GRCh37 Chromosome 6, 152679518: 152679518
24 SYNE1 NM_033071.3(SYNE1): c.10619G> A (p.Arg3540His) single nucleotide variant Benign/Likely benign rs145911138 GRCh38 Chromosome 6, 152358383: 152358383
25 SYNE1 NM_033071.3(SYNE1): c.11576A> C (p.Lys3859Thr) single nucleotide variant Benign rs13210127 GRCh37 Chromosome 6, 152671865: 152671865
26 SYNE1 NM_033071.3(SYNE1): c.11576A> C (p.Lys3859Thr) single nucleotide variant Benign rs13210127 GRCh38 Chromosome 6, 152350730: 152350730
27 SYNE1 NM_033071.3(SYNE1): c.11844G> A (p.Ala3948=) single nucleotide variant Benign/Likely benign rs144596829 GRCh37 Chromosome 6, 152668215: 152668215
28 SYNE1 NM_033071.3(SYNE1): c.11844G> A (p.Ala3948=) single nucleotide variant Benign/Likely benign rs144596829 GRCh38 Chromosome 6, 152347080: 152347080
29 SYNE1 NM_033071.3(SYNE1): c.11925G> A (p.Gln3975=) single nucleotide variant Benign rs60344647 GRCh37 Chromosome 6, 152665303: 152665303
30 SYNE1 NM_033071.3(SYNE1): c.11925G> A (p.Gln3975=) single nucleotide variant Benign rs60344647 GRCh38 Chromosome 6, 152344168: 152344168
31 SYNE1 NM_033071.3(SYNE1): c.12229G> C (p.Asp4077His) single nucleotide variant Benign/Likely benign rs117501809 GRCh37 Chromosome 6, 152658062: 152658062
32 SYNE1 NM_033071.3(SYNE1): c.12229G> C (p.Asp4077His) single nucleotide variant Benign/Likely benign rs117501809 GRCh38 Chromosome 6, 152336927: 152336927
33 SYNE1 NM_033071.3(SYNE1): c.12394G> A (p.Glu4132Lys) single nucleotide variant Benign/Likely benign rs2130262 GRCh37 Chromosome 6, 152655330: 152655330
34 SYNE1 NM_033071.3(SYNE1): c.12394G> A (p.Glu4132Lys) single nucleotide variant Benign/Likely benign rs2130262 GRCh38 Chromosome 6, 152334195: 152334195
35 SYNE1 NM_033071.3(SYNE1): c.13008C> T (p.Asp4336=) single nucleotide variant Benign/Likely benign rs10499268 GRCh37 Chromosome 6, 152652599: 152652599
36 SYNE1 NM_033071.3(SYNE1): c.13008C> T (p.Asp4336=) single nucleotide variant Benign/Likely benign rs10499268 GRCh38 Chromosome 6, 152331464: 152331464
37 SYNE1 NM_033071.3(SYNE1): c.13894G> A (p.Asp4632Asn) single nucleotide variant Benign/Likely benign rs116000545 GRCh37 Chromosome 6, 152651713: 152651713
38 SYNE1 NM_033071.3(SYNE1): c.13894G> A (p.Asp4632Asn) single nucleotide variant Benign/Likely benign rs116000545 GRCh38 Chromosome 6, 152330578: 152330578
39 SYNE1 NM_033071.3(SYNE1): c.14704C> T (p.Leu4902=) single nucleotide variant Benign/Likely benign rs35085679 GRCh37 Chromosome 6, 152650903: 152650903
40 SYNE1 NM_033071.3(SYNE1): c.14704C> T (p.Leu4902=) single nucleotide variant Benign/Likely benign rs35085679 GRCh38 Chromosome 6, 152329768: 152329768
41 SYNE1 NM_033071.3(SYNE1): c.15384C> G (p.Ala5128=) single nucleotide variant Benign rs9383987 GRCh37 Chromosome 6, 152646279: 152646279
42 SYNE1 NM_033071.3(SYNE1): c.15384C> G (p.Ala5128=) single nucleotide variant Benign rs9383987 GRCh38 Chromosome 6, 152325144: 152325144
43 SYNE1 NM_033071.3(SYNE1): c.16064C> T (p.Thr5355Met) single nucleotide variant Benign/Likely benign rs2306914 GRCh37 Chromosome 6, 152640110: 152640110
44 SYNE1 NM_033071.3(SYNE1): c.16064C> T (p.Thr5355Met) single nucleotide variant Benign/Likely benign rs2306914 GRCh38 Chromosome 6, 152318975: 152318975
45 SYNE1 NM_033071.3(SYNE1): c.17126G> A (p.Arg5709Gln) single nucleotide variant Benign/Likely benign rs76160752 GRCh37 Chromosome 6, 152629631: 152629631
46 SYNE1 NM_033071.3(SYNE1): c.17126G> A (p.Arg5709Gln) single nucleotide variant Benign/Likely benign rs76160752 GRCh38 Chromosome 6, 152308496: 152308496
47 SYNE1 NM_033071.3(SYNE1): c.17205G> A (p.Thr5735=) single nucleotide variant Benign/Likely benign rs17082422 GRCh37 Chromosome 6, 152623127: 152623127
48 SYNE1 NM_033071.3(SYNE1): c.17205G> A (p.Thr5735=) single nucleotide variant Benign/Likely benign rs17082422 GRCh38 Chromosome 6, 152301992: 152301992
49 SYNE1 NM_033071.3(SYNE1): c.18588C> T (p.Thr6196=) single nucleotide variant Benign/Likely benign rs116007471 GRCh37 Chromosome 6, 152589205: 152589205
50 SYNE1 NM_033071.3(SYNE1): c.18588C> T (p.Thr6196=) single nucleotide variant Benign/Likely benign rs116007471 GRCh38 Chromosome 6, 152268070: 152268070

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 ESR1 SYNE1

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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