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 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. Affiliated tissues include bone, and 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

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

42
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

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

# Title Authors Year
1
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 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 782)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh37 Chromosome 14, 64676751: 64676751
2 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh38 Chromosome 14, 64210033: 64210033
3 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh37 Chromosome 14, 64537498: 64537498
4 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh38 Chromosome 14, 64070780: 64070780
5 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh37 Chromosome 14, 64540823: 64540823
6 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh38 Chromosome 14, 64074105: 64074105
7 SYNE2 NM_182914.2(SYNE2): c.11385G> A (p.Lys3795=) single nucleotide variant Benign rs34954189 GRCh37 Chromosome 14, 64548199: 64548199
8 SYNE2 NM_182914.2(SYNE2): c.11385G> A (p.Lys3795=) single nucleotide variant Benign rs34954189 GRCh38 Chromosome 14, 64081481: 64081481
9 SYNE2 NM_182914.2(SYNE2): c.11935C> G (p.Leu3979Val) single nucleotide variant Benign rs76576553 GRCh37 Chromosome 14, 64557725: 64557725
10 SYNE2 NM_182914.2(SYNE2): c.11935C> G (p.Leu3979Val) single nucleotide variant Benign rs76576553 GRCh38 Chromosome 14, 64091007: 64091007
11 SYNE2 NM_182914.2(SYNE2): c.12001T> C (p.Trp4001Arg) single nucleotide variant Benign rs2792205 GRCh37 Chromosome 14, 64560091: 64560091
12 SYNE2 NM_182914.2(SYNE2): c.12001T> C (p.Trp4001Arg) single nucleotide variant Benign rs2792205 GRCh38 Chromosome 14, 64093373: 64093373
13 SYNE2 NM_182914.2(SYNE2): c.12002G> A (p.Trp4001Ter) single nucleotide variant Benign rs2781377 GRCh37 Chromosome 14, 64560092: 64560092
14 SYNE2 NM_182914.2(SYNE2): c.12002G> A (p.Trp4001Ter) single nucleotide variant Benign rs2781377 GRCh38 Chromosome 14, 64093374: 64093374
15 SYNE2 NM_182914.2(SYNE2): c.12043T> C (p.Tyr4015His) single nucleotide variant Benign/Likely benign rs75665958 GRCh37 Chromosome 14, 64560133: 64560133
16 SYNE2 NM_182914.2(SYNE2): c.12043T> C (p.Tyr4015His) single nucleotide variant Benign/Likely benign rs75665958 GRCh38 Chromosome 14, 64093415: 64093415
17 SYNE2 NM_182914.2(SYNE2): c.12122G> A (p.Arg4041His) single nucleotide variant Benign/Likely benign rs17101661 GRCh37 Chromosome 14, 64564680: 64564680
18 SYNE2 NM_182914.2(SYNE2): c.12122G> A (p.Arg4041His) single nucleotide variant Benign/Likely benign rs17101661 GRCh38 Chromosome 14, 64097962: 64097962
19 SYNE2 NM_182914.2(SYNE2): c.12612C> T (p.Gly4204=) single nucleotide variant Benign rs114604397 GRCh37 Chromosome 14, 64580061: 64580061
20 SYNE2 NM_182914.2(SYNE2): c.12612C> T (p.Gly4204=) single nucleotide variant Benign rs114604397 GRCh38 Chromosome 14, 64113343: 64113343
21 SYNE2 NM_182914.2(SYNE2): c.12626T> C (p.Ile4209Thr) single nucleotide variant Benign/Likely benign rs61747118 GRCh37 Chromosome 14, 64580075: 64580075
22 SYNE2 NM_182914.2(SYNE2): c.12626T> C (p.Ile4209Thr) single nucleotide variant Benign/Likely benign rs61747118 GRCh38 Chromosome 14, 64113357: 64113357
23 SYNE2 NM_182914.2(SYNE2): c.12840+8T> C single nucleotide variant Benign rs145218296 GRCh37 Chromosome 14, 64580297: 64580297
24 SYNE2 NM_182914.2(SYNE2): c.12840+8T> C single nucleotide variant Benign rs145218296 GRCh38 Chromosome 14, 64113579: 64113579
25 SYNE2 NM_182914.2(SYNE2): c.1296C> A (p.Ser432Arg) single nucleotide variant Benign rs35554503 GRCh37 Chromosome 14, 64444625: 64444625
26 SYNE2 NM_182914.2(SYNE2): c.1296C> A (p.Ser432Arg) single nucleotide variant Benign rs35554503 GRCh38 Chromosome 14, 63977907: 63977907
27 SYNE2 NM_182914.2(SYNE2): c.13254C> A (p.Asn4418Lys) single nucleotide variant Benign/Likely benign rs36021513 GRCh37 Chromosome 14, 64588825: 64588825
28 SYNE2 NM_182914.2(SYNE2): c.13254C> A (p.Asn4418Lys) single nucleotide variant Benign/Likely benign rs36021513 GRCh38 Chromosome 14, 64122107: 64122107
29 SYNE2 NM_182914.2(SYNE2): c.13266G> A (p.Gln4422=) single nucleotide variant Benign/Likely benign rs34944385 GRCh37 Chromosome 14, 64588837: 64588837
30 SYNE2 NM_182914.2(SYNE2): c.13266G> A (p.Gln4422=) single nucleotide variant Benign/Likely benign rs34944385 GRCh38 Chromosome 14, 64122119: 64122119
31 SYNE2 NM_182914.2(SYNE2): c.13423-7C> G single nucleotide variant Benign rs7140414 GRCh37 Chromosome 14, 64591790: 64591790
32 SYNE2 NM_182914.2(SYNE2): c.13423-7C> G single nucleotide variant Benign rs7140414 GRCh38 Chromosome 14, 64125072: 64125072
33 SYNE2 NM_182914.2(SYNE2): c.14430A> G (p.Thr4810=) single nucleotide variant Benign/Likely benign rs34248042 GRCh37 Chromosome 14, 64599072: 64599072
34 SYNE2 NM_182914.2(SYNE2): c.14430A> G (p.Thr4810=) single nucleotide variant Benign/Likely benign rs34248042 GRCh38 Chromosome 14, 64132354: 64132354
35 SYNE2 NM_182914.2(SYNE2): c.14734C> G (p.Pro4912Ala) single nucleotide variant Benign/Likely benign rs17766354 GRCh37 Chromosome 14, 64604592: 64604592
36 SYNE2 NM_182914.2(SYNE2): c.14734C> G (p.Pro4912Ala) single nucleotide variant Benign/Likely benign rs17766354 GRCh38 Chromosome 14, 64137874: 64137874
37 SYNE2 NM_182914.2(SYNE2): c.14737G> A (p.Glu4913Lys) single nucleotide variant Benign rs12881815 GRCh37 Chromosome 14, 64604595: 64604595
38 SYNE2 NM_182914.2(SYNE2): c.14737G> A (p.Glu4913Lys) single nucleotide variant Benign rs12881815 GRCh38 Chromosome 14, 64137877: 64137877
39 SYNE2 NM_182914.2(SYNE2): c.14776T> C (p.Leu4926=) single nucleotide variant Benign rs8007874 GRCh37 Chromosome 14, 64604634: 64604634
40 SYNE2 NM_182914.2(SYNE2): c.14776T> C (p.Leu4926=) single nucleotide variant Benign rs8007874 GRCh38 Chromosome 14, 64137916: 64137916
41 SYNE2 NM_182914.2(SYNE2): c.15556C> A (p.Leu5186Met) single nucleotide variant Benign rs10151658 GRCh37 Chromosome 14, 64612858: 64612858
42 SYNE2 NM_182914.2(SYNE2): c.15556C> A (p.Leu5186Met) single nucleotide variant Benign rs10151658 GRCh38 Chromosome 14, 64146140: 64146140
43 SYNE2 NM_182914.2(SYNE2): c.15794T> C (p.Val5265Ala) single nucleotide variant Benign/Likely benign rs142660236 GRCh37 Chromosome 14, 64625344: 64625344
44 SYNE2 NM_182914.2(SYNE2): c.15794T> C (p.Val5265Ala) single nucleotide variant Benign/Likely benign rs142660236 GRCh38 Chromosome 14, 64158626: 64158626
45 SYNE2 NM_182914.2(SYNE2): c.16305G> A (p.Leu5435=) single nucleotide variant Benign/Likely benign rs116758464 GRCh37 Chromosome 14, 64630125: 64630125
46 SYNE2 NM_182914.2(SYNE2): c.16305G> A (p.Leu5435=) single nucleotide variant Benign/Likely benign rs116758464 GRCh38 Chromosome 14, 64163407: 64163407
47 SYNE2 NM_182914.2(SYNE2): c.16522T> A (p.Ser5508Thr) single nucleotide variant Benign/Likely benign rs35190322 GRCh37 Chromosome 14, 64632045: 64632045
48 SYNE2 NM_182914.2(SYNE2): c.16522T> A (p.Ser5508Thr) single nucleotide variant Benign/Likely benign rs35190322 GRCh38 Chromosome 14, 64165327: 64165327
49 SYNE2 NM_182914.2(SYNE2): c.16722A> G (p.Gln5574=) single nucleotide variant Benign rs17101704 GRCh37 Chromosome 14, 64634067: 64634067
50 SYNE2 NM_182914.2(SYNE2): c.16722A> G (p.Gln5574=) single nucleotide variant Benign rs17101704 GRCh38 Chromosome 14, 64167349: 64167349

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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