EDMD4
MCID: EMR014
MIFTS: 22

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 75 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 57 12 75
Edmd4 57 12 75
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 40
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12
Emery-Dreifuss Muscular Dystrophy 4 73
Emd4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

32
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Onset and clinical course phenotypic variability childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612998
Disease Ontology 12 DOID:0070249
MedGen 42 C2751807
MeSH 44 D020389
UMLS 73 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 elevated serum creatine phosphokinase and proximal 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 9.7 SYNE1 SYNE1-AS1

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

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

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

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

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

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

41
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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

75
# 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 946)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh37 Chromosome 6, 152473122: 152473122
2 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh38 Chromosome 6, 152151987: 152151987
3 SYNE1 NM_033071.3(SYNE1): c.25015G> T (p.Val8339Leu) single nucleotide variant Pathogenic rs119103247 GRCh37 Chromosome 6, 152462425: 152462425
4 SYNE1 NM_033071.3(SYNE1): c.25015G> T (p.Val8339Leu) single nucleotide variant Pathogenic rs119103247 GRCh38 Chromosome 6, 152141290: 152141290
5 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh37 Chromosome 6, 152461162: 152461162
6 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh38 Chromosome 6, 152140027: 152140027
7 SYNE1 SYNE1, IVS136AS, A-G, -2 single nucleotide variant Pathogenic
8 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 GRCh37 Chromosome 6, 152469504: 152469504
9 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 GRCh38 Chromosome 6, 152148369: 152148369
10 SYNE1 NM_033071.3(SYNE1): c.24439G> A (p.Asp8147Asn) single nucleotide variant Uncertain significance rs267600861 NCBI36 Chromosome 6, 152511197: 152511197
11 SYNE1 NM_033071.3(SYNE1): c.9283G> A (p.Ala3095Thr) single nucleotide variant Uncertain significance rs398123005 GRCh37 Chromosome 6, 152697578: 152697578
12 SYNE1 NM_033071.3(SYNE1): c.9283G> A (p.Ala3095Thr) single nucleotide variant Uncertain significance rs398123005 GRCh38 Chromosome 6, 152376443: 152376443
13 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh37 Chromosome 6, 152784621: 152784621
14 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh38 Chromosome 6, 152463486: 152463486
15 SYNE1 NM_033071.3(SYNE1): c.10043T> C (p.Val3348Ala) single nucleotide variant Benign/Likely benign rs138693624 GRCh37 Chromosome 6, 152686105: 152686105
16 SYNE1 NM_033071.3(SYNE1): c.10043T> C (p.Val3348Ala) single nucleotide variant Benign/Likely benign rs138693624 GRCh38 Chromosome 6, 152364970: 152364970
17 SYNE1 NM_033071.3(SYNE1): c.10228G> A (p.Gly3410Ser) single nucleotide variant Benign/Likely benign rs116758271 GRCh37 Chromosome 6, 152683397: 152683397
18 SYNE1 NM_033071.3(SYNE1): c.10228G> A (p.Gly3410Ser) single nucleotide variant Benign/Likely benign rs116758271 GRCh38 Chromosome 6, 152362262: 152362262
19 SYNE1 NM_033071.3(SYNE1): c.10543T> C (p.Leu3515=) single nucleotide variant Benign/Likely benign rs62426382 GRCh37 Chromosome 6, 152679594: 152679594
20 SYNE1 NM_033071.3(SYNE1): c.10543T> C (p.Leu3515=) single nucleotide variant Benign/Likely benign rs62426382 GRCh38 Chromosome 6, 152358459: 152358459
21 SYNE1 NM_033071.3(SYNE1): c.10619G> A (p.Arg3540His) single nucleotide variant Benign/Likely benign rs145911138 GRCh37 Chromosome 6, 152679518: 152679518
22 SYNE1 NM_033071.3(SYNE1): c.10619G> A (p.Arg3540His) single nucleotide variant Benign/Likely benign rs145911138 GRCh38 Chromosome 6, 152358383: 152358383
23 SYNE1 NM_033071.3(SYNE1): c.11576A> C (p.Lys3859Thr) single nucleotide variant Benign rs13210127 GRCh37 Chromosome 6, 152671865: 152671865
24 SYNE1 NM_033071.3(SYNE1): c.11576A> C (p.Lys3859Thr) single nucleotide variant Benign rs13210127 GRCh38 Chromosome 6, 152350730: 152350730
25 SYNE1 NM_033071.3(SYNE1): c.11844G> A (p.Ala3948=) single nucleotide variant Benign/Likely benign rs144596829 GRCh37 Chromosome 6, 152668215: 152668215
26 SYNE1 NM_033071.3(SYNE1): c.11844G> A (p.Ala3948=) single nucleotide variant Benign/Likely benign rs144596829 GRCh38 Chromosome 6, 152347080: 152347080
27 SYNE1 NM_033071.3(SYNE1): c.11925G> A (p.Gln3975=) single nucleotide variant Benign rs60344647 GRCh37 Chromosome 6, 152665303: 152665303
28 SYNE1 NM_033071.3(SYNE1): c.11925G> A (p.Gln3975=) single nucleotide variant Benign rs60344647 GRCh38 Chromosome 6, 152344168: 152344168
29 SYNE1 NM_033071.3(SYNE1): c.12229G> C (p.Asp4077His) single nucleotide variant Benign/Likely benign rs117501809 GRCh37 Chromosome 6, 152658062: 152658062
30 SYNE1 NM_033071.3(SYNE1): c.12229G> C (p.Asp4077His) single nucleotide variant Benign/Likely benign rs117501809 GRCh38 Chromosome 6, 152336927: 152336927
31 SYNE1 NM_033071.3(SYNE1): c.12394G> A (p.Glu4132Lys) single nucleotide variant Benign/Likely benign rs2130262 GRCh37 Chromosome 6, 152655330: 152655330
32 SYNE1 NM_033071.3(SYNE1): c.12394G> A (p.Glu4132Lys) single nucleotide variant Benign/Likely benign rs2130262 GRCh38 Chromosome 6, 152334195: 152334195
33 SYNE1 NM_033071.3(SYNE1): c.13008C> T (p.Asp4336=) single nucleotide variant Benign/Likely benign rs10499268 GRCh37 Chromosome 6, 152652599: 152652599
34 SYNE1 NM_033071.3(SYNE1): c.13008C> T (p.Asp4336=) single nucleotide variant Benign/Likely benign rs10499268 GRCh38 Chromosome 6, 152331464: 152331464
35 SYNE1 NM_033071.3(SYNE1): c.13894G> A (p.Asp4632Asn) single nucleotide variant Benign/Likely benign rs116000545 GRCh37 Chromosome 6, 152651713: 152651713
36 SYNE1 NM_033071.3(SYNE1): c.13894G> A (p.Asp4632Asn) single nucleotide variant Benign/Likely benign rs116000545 GRCh38 Chromosome 6, 152330578: 152330578
37 SYNE1 NM_033071.3(SYNE1): c.14704C> T (p.Leu4902=) single nucleotide variant Benign/Likely benign rs35085679 GRCh37 Chromosome 6, 152650903: 152650903
38 SYNE1 NM_033071.3(SYNE1): c.14704C> T (p.Leu4902=) single nucleotide variant Benign/Likely benign rs35085679 GRCh38 Chromosome 6, 152329768: 152329768
39 SYNE1 NM_033071.3(SYNE1): c.15384C> G (p.Ala5128=) single nucleotide variant Benign rs9383987 GRCh37 Chromosome 6, 152646279: 152646279
40 SYNE1 NM_033071.3(SYNE1): c.15384C> G (p.Ala5128=) single nucleotide variant Benign rs9383987 GRCh38 Chromosome 6, 152325144: 152325144
41 SYNE1 NM_033071.3(SYNE1): c.16064C> T (p.Thr5355Met) single nucleotide variant Benign/Likely benign rs2306914 GRCh37 Chromosome 6, 152640110: 152640110
42 SYNE1 NM_033071.3(SYNE1): c.16064C> T (p.Thr5355Met) single nucleotide variant Benign/Likely benign rs2306914 GRCh38 Chromosome 6, 152318975: 152318975
43 SYNE1 NM_033071.3(SYNE1): c.17126G> A (p.Arg5709Gln) single nucleotide variant Benign/Likely benign rs76160752 GRCh37 Chromosome 6, 152629631: 152629631
44 SYNE1 NM_033071.3(SYNE1): c.17126G> A (p.Arg5709Gln) single nucleotide variant Benign/Likely benign rs76160752 GRCh38 Chromosome 6, 152308496: 152308496
45 SYNE1 NM_033071.3(SYNE1): c.17205G> A (p.Thr5735=) single nucleotide variant Benign/Likely benign rs17082422 GRCh37 Chromosome 6, 152623127: 152623127
46 SYNE1 NM_033071.3(SYNE1): c.17205G> A (p.Thr5735=) single nucleotide variant Benign/Likely benign rs17082422 GRCh38 Chromosome 6, 152301992: 152301992
47 SYNE1 NM_033071.3(SYNE1): c.18588C> T (p.Thr6196=) single nucleotide variant Benign/Likely benign rs116007471 GRCh37 Chromosome 6, 152589205: 152589205
48 SYNE1 NM_033071.3(SYNE1): c.18588C> T (p.Thr6196=) single nucleotide variant Benign/Likely benign rs116007471 GRCh38 Chromosome 6, 152268070: 152268070
49 SYNE1 NM_033071.3(SYNE1): c.19776T> C (p.His6592=) single nucleotide variant Benign/Likely benign rs61746395 GRCh37 Chromosome 6, 152560746: 152560746
50 SYNE1 NM_033071.3(SYNE1): c.19776T> C (p.His6592=) single nucleotide variant Benign/Likely benign rs61746395 GRCh38 Chromosome 6, 152239611: 152239611

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

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....