MCID: EMR015
MIFTS: 18

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular 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 57 75 29 13 6 73
Edmd5 57 75
Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant 40
Emd5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

32
emery-dreifuss muscular dystrophy 5, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability childhood onset


Classifications:



Summaries for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are cardiomyopathy and respiratory insufficiency

Description from OMIM: 612999

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

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy
arrhythmias

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

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

612999

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 respiratory insufficiency 32 HP:0002093
3 elevated serum creatine phosphokinase 32 HP:0003236
4 muscular dystrophy 32 HP:0003560
5 proximal muscle weakness 32 HP:0003701
6 proximal amyotrophy 32 HP:0007126
7 arrhythmia 32 HP:0011675

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 29 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:

75
# 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 524)
# 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.8911C> G (p.Gln2971Glu) single nucleotide variant Uncertain significance rs200909650 GRCh37 Chromosome 14, 64519542: 64519542
24 SYNE2 NM_182914.2(SYNE2): c.8911C> G (p.Gln2971Glu) single nucleotide variant Uncertain significance rs200909650 GRCh38 Chromosome 14, 64052824: 64052824
25 SYNE2 NM_182914.2(SYNE2): c.11313G> C (p.Gln3771His) single nucleotide variant Conflicting interpretations of pathogenicity rs144596211 GRCh37 Chromosome 14, 64547323: 64547323
26 SYNE2 NM_182914.2(SYNE2): c.11313G> C (p.Gln3771His) single nucleotide variant Conflicting interpretations of pathogenicity rs144596211 GRCh38 Chromosome 14, 64080605: 64080605
27 SYNE2 NM_182914.2(SYNE2): c.12378C> T (p.Ser4126=) single nucleotide variant Benign/Likely benign rs36007735 GRCh37 Chromosome 14, 64565536: 64565536
28 SYNE2 NM_182914.2(SYNE2): c.12378C> T (p.Ser4126=) single nucleotide variant Benign/Likely benign rs36007735 GRCh38 Chromosome 14, 64098818: 64098818
29 SYNE2 NM_182914.2(SYNE2): c.14792A> G (p.Lys4931Arg) single nucleotide variant Likely benign rs147640636 GRCh37 Chromosome 14, 64604650: 64604650
30 SYNE2 NM_182914.2(SYNE2): c.14792A> G (p.Lys4931Arg) single nucleotide variant Likely benign rs147640636 GRCh38 Chromosome 14, 64137932: 64137932
31 SYNE2 NM_182914.2(SYNE2): c.15248A> G (p.Asp5083Gly) single nucleotide variant Likely benign rs149617373 GRCh37 Chromosome 14, 64608748: 64608748
32 SYNE2 NM_182914.2(SYNE2): c.15248A> G (p.Asp5083Gly) single nucleotide variant Likely benign rs149617373 GRCh38 Chromosome 14, 64142030: 64142030
33 SYNE2 NM_182914.2(SYNE2): c.15928T> C (p.Leu5310=) single nucleotide variant Conflicting interpretations of pathogenicity rs74975380 GRCh37 Chromosome 14, 64625478: 64625478
34 SYNE2 NM_182914.2(SYNE2): c.15928T> C (p.Leu5310=) single nucleotide variant Conflicting interpretations of pathogenicity rs74975380 GRCh38 Chromosome 14, 64158760: 64158760
35 SYNE2 NM_182914.2(SYNE2): c.16718G> A (p.Arg5573Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149227847 GRCh37 Chromosome 14, 64634063: 64634063
36 SYNE2 NM_182914.2(SYNE2): c.16718G> A (p.Arg5573Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149227847 GRCh38 Chromosome 14, 64167345: 64167345
37 SYNE2 NM_182914.2(SYNE2): c.17561T> C (p.Leu5854Pro) single nucleotide variant Benign/Likely benign rs117070973 GRCh37 Chromosome 14, 64653146: 64653146
38 SYNE2 NM_182914.2(SYNE2): c.17561T> C (p.Leu5854Pro) single nucleotide variant Benign/Likely benign rs117070973 GRCh38 Chromosome 14, 64186428: 64186428
39 SYNE2 NM_182914.2(SYNE2): c.521A> G (p.Lys174Arg) single nucleotide variant Uncertain significance rs139238702 GRCh38 Chromosome 14, 63949937: 63949937
40 SYNE2 NM_182914.2(SYNE2): c.521A> G (p.Lys174Arg) single nucleotide variant Uncertain significance rs139238702 GRCh37 Chromosome 14, 64416655: 64416655
41 SYNE2 NM_182914.2(SYNE2): c.7163A> G (p.Glu2388Gly) single nucleotide variant Benign/Likely benign rs45590135 GRCh37 Chromosome 14, 64498017: 64498017
42 SYNE2 NM_182914.2(SYNE2): c.7163A> G (p.Glu2388Gly) single nucleotide variant Benign/Likely benign rs45590135 GRCh38 Chromosome 14, 64031299: 64031299
43 SYNE2 NM_182914.2(SYNE2): c.10494A> G (p.Thr3498=) single nucleotide variant Conflicting interpretations of pathogenicity rs201000414 GRCh37 Chromosome 14, 64537425: 64537425
44 SYNE2 NM_182914.2(SYNE2): c.10494A> G (p.Thr3498=) single nucleotide variant Conflicting interpretations of pathogenicity rs201000414 GRCh38 Chromosome 14, 64070707: 64070707
45 SYNE2 NM_182914.2(SYNE2): c.20062-119G> C single nucleotide variant Benign rs1152588 GRCh37 Chromosome 14, 64688175: 64688175
46 SYNE2 NM_182914.2(SYNE2): c.20062-119G> C single nucleotide variant Benign rs1152588 GRCh38 Chromosome 14, 64221457: 64221457
47 SYNE2 NM_182914.2(SYNE2): c.6685C> G (p.Leu2229Val) single nucleotide variant Uncertain significance rs375543783 GRCh37 Chromosome 14, 64494482: 64494482
48 SYNE2 NM_182914.2(SYNE2): c.6685C> G (p.Leu2229Val) single nucleotide variant Uncertain significance rs375543783 GRCh38 Chromosome 14, 64027764: 64027764
49 SYNE2 NM_182914.2(SYNE2): c.11944A> G (p.Asn3982Asp) single nucleotide variant Benign/Likely benign rs10137972 GRCh37 Chromosome 14, 64557734: 64557734
50 SYNE2 NM_182914.2(SYNE2): c.11944A> G (p.Asn3982Asp) single nucleotide variant Benign/Likely benign rs10137972 GRCh38 Chromosome 14, 64091016: 64091016

Expression for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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Pathways for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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

Sources for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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