EDMD5
MCID: EMR015
MIFTS: 21

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant (EDMD5)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 58 12 76 30 13 6 74
Edmd5 58 12 76
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant 41
Emd5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

33
emery-dreifuss muscular dystrophy 5, autosomal dominant:
Onset and clinical course phenotypic variability childhood onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Emery-Dreifuss muscular dystrophy 5, 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 5, Autosomal Dominant, is also known as edmd5. An important gene associated with Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant is SYNE2 (Spectrin Repeat Containing Nuclear Envelope Protein 2), and among its related pathways/superpathways is Meiosis. Related phenotypes are respiratory insufficiency and arrhythmia

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.

Description from OMIM: 612999

Related Diseases for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 arrhythmia 33 HP:0011675
3 cardiomyopathy 33 HP:0001638
4 proximal muscle weakness 33 HP:0003701
5 muscular dystrophy 33 HP:0003560
6 proximal amyotrophy 33 HP:0007126
7 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy
arrhythmias

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

Clinical features from OMIM:

612999

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 30 SYNE2

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 SYNE2 p.Thr6211Met VAR_062977 rs36215895

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

6 (show top 50) (show all 778)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE2 NM_182914.2(SYNE2): c.7898A> G (p.Asn2633Ser) single nucleotide variant Benign/Likely benign rs190582637 GRCh37 Chromosome 14, 64518529: 64518529
2 SYNE2 NM_182914.2(SYNE2): c.7898A> G (p.Asn2633Ser) single nucleotide variant Benign/Likely benign rs190582637 GRCh38 Chromosome 14, 64051811: 64051811
3 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh37 Chromosome 14, 64669514: 64669514
4 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh38 Chromosome 14, 64202796: 64202796
5 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh37 Chromosome 14, 64680990: 64680990
6 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh38 Chromosome 14, 64214272: 64214272
7 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh37 Chromosome 14, 64687305: 64687305
8 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh38 Chromosome 14, 64220587: 64220587
9 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh37 Chromosome 14, 64688390: 64688390
10 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh38 Chromosome 14, 64221672: 64221672
11 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh37 Chromosome 14, 64689913: 64689913
12 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh38 Chromosome 14, 64223195: 64223195
13 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh37 Chromosome 14, 64691206: 64691206
14 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh38 Chromosome 14, 64224488: 64224488
15 SYNE2 NM_182914.2(SYNE2): c.20542C> T (p.Arg6848Cys) single nucleotide variant Uncertain significance rs201472187 GRCh37 Chromosome 14, 64692062: 64692062
16 SYNE2 NM_182914.2(SYNE2): c.20542C> T (p.Arg6848Cys) single nucleotide variant Uncertain significance rs201472187 GRCh38 Chromosome 14, 64225344: 64225344
17 SYNE2 NM_182914.2(SYNE2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs192128801 GRCh37 Chromosome 14, 64464101: 64464101
18 SYNE2 NM_182914.2(SYNE2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs192128801 GRCh38 Chromosome 14, 63997383: 63997383
19 SYNE2 NM_182914.2(SYNE2): c.7162G> A (p.Glu2388Lys) single nucleotide variant Benign/Likely benign rs200842904 GRCh37 Chromosome 14, 64498016: 64498016
20 SYNE2 NM_182914.2(SYNE2): c.7162G> A (p.Glu2388Lys) single nucleotide variant Benign/Likely benign rs200842904 GRCh38 Chromosome 14, 64031298: 64031298
21 SYNE2 NM_182914.2(SYNE2): c.9230C> T (p.Pro3077Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200742016 GRCh37 Chromosome 14, 64519861: 64519861
22 SYNE2 NM_182914.2(SYNE2): c.9230C> T (p.Pro3077Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200742016 GRCh38 Chromosome 14, 64053143: 64053143
23 SYNE2 NM_182914.2(SYNE2): c.7976G> A (p.Arg2659Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199561218 GRCh37 Chromosome 14, 64518607: 64518607
24 SYNE2 NM_182914.2(SYNE2): c.7976G> A (p.Arg2659Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199561218 GRCh38 Chromosome 14, 64051889: 64051889
25 SYNE2 NM_182914.2(SYNE2): c.8911C> G (p.Gln2971Glu) single nucleotide variant Uncertain significance rs200909650 GRCh37 Chromosome 14, 64519542: 64519542
26 SYNE2 NM_182914.2(SYNE2): c.8911C> G (p.Gln2971Glu) single nucleotide variant Uncertain significance rs200909650 GRCh38 Chromosome 14, 64052824: 64052824
27 SYNE2 NM_182914.2(SYNE2): c.11313G> C (p.Gln3771His) single nucleotide variant Conflicting interpretations of pathogenicity rs144596211 GRCh37 Chromosome 14, 64547323: 64547323
28 SYNE2 NM_182914.2(SYNE2): c.11313G> C (p.Gln3771His) single nucleotide variant Conflicting interpretations of pathogenicity rs144596211 GRCh38 Chromosome 14, 64080605: 64080605
29 SYNE2 NM_182914.2(SYNE2): c.12378C> T (p.Ser4126=) single nucleotide variant Benign/Likely benign rs36007735 GRCh37 Chromosome 14, 64565536: 64565536
30 SYNE2 NM_182914.2(SYNE2): c.12378C> T (p.Ser4126=) single nucleotide variant Benign/Likely benign rs36007735 GRCh38 Chromosome 14, 64098818: 64098818
31 SYNE2 NM_182914.2(SYNE2): c.14792A> G (p.Lys4931Arg) single nucleotide variant Likely benign rs147640636 GRCh37 Chromosome 14, 64604650: 64604650
32 SYNE2 NM_182914.2(SYNE2): c.14792A> G (p.Lys4931Arg) single nucleotide variant Likely benign rs147640636 GRCh38 Chromosome 14, 64137932: 64137932
33 SYNE2 NM_182914.2(SYNE2): c.15248A> G (p.Asp5083Gly) single nucleotide variant Likely benign rs149617373 GRCh37 Chromosome 14, 64608748: 64608748
34 SYNE2 NM_182914.2(SYNE2): c.15248A> G (p.Asp5083Gly) single nucleotide variant Likely benign rs149617373 GRCh38 Chromosome 14, 64142030: 64142030
35 SYNE2 NM_182914.2(SYNE2): c.15928T> C (p.Leu5310=) single nucleotide variant Conflicting interpretations of pathogenicity rs74975380 GRCh37 Chromosome 14, 64625478: 64625478
36 SYNE2 NM_182914.2(SYNE2): c.15928T> C (p.Leu5310=) single nucleotide variant Conflicting interpretations of pathogenicity rs74975380 GRCh38 Chromosome 14, 64158760: 64158760
37 SYNE2 NM_182914.2(SYNE2): c.15857A> G (p.Tyr5286Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149354607 GRCh37 Chromosome 14, 64625407: 64625407
38 SYNE2 NM_182914.2(SYNE2): c.15857A> G (p.Tyr5286Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149354607 GRCh38 Chromosome 14, 64158689: 64158689
39 SYNE2 NM_182914.2(SYNE2): c.16718G> A (p.Arg5573Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149227847 GRCh37 Chromosome 14, 64634063: 64634063
40 SYNE2 NM_182914.2(SYNE2): c.16718G> A (p.Arg5573Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149227847 GRCh38 Chromosome 14, 64167345: 64167345
41 SYNE2 NM_182914.2(SYNE2): c.17561T> C (p.Leu5854Pro) single nucleotide variant Benign/Likely benign rs117070973 GRCh37 Chromosome 14, 64653146: 64653146
42 SYNE2 NM_182914.2(SYNE2): c.17561T> C (p.Leu5854Pro) single nucleotide variant Benign/Likely benign rs117070973 GRCh38 Chromosome 14, 64186428: 64186428
43 SYNE2 NM_182914.2(SYNE2): c.521A> G (p.Lys174Arg) single nucleotide variant Uncertain significance rs139238702 GRCh38 Chromosome 14, 63949937: 63949937
44 SYNE2 NM_182914.2(SYNE2): c.521A> G (p.Lys174Arg) single nucleotide variant Uncertain significance rs139238702 GRCh37 Chromosome 14, 64416655: 64416655
45 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh37 Chromosome 14, 64676751: 64676751
46 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh38 Chromosome 14, 64210033: 64210033
47 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh37 Chromosome 14, 64537498: 64537498
48 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh38 Chromosome 14, 64070780: 64070780
49 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh37 Chromosome 14, 64540823: 64540823
50 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh38 Chromosome 14, 64074105: 64074105

Expression for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.09 BRCA1 SYNE2

GO Terms for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Sources for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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