EDMD7
MCID: EMR019
MIFTS: 33

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (EDMD7)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 56 12 73 29 6 71
Emery-Dreifuss Muscular Dystrophy 7, Ad 56 29 13
Edmd7 56 12 73
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant 39
Emd7 73

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
slowly progressive
two japanese patients have been reported (last curated march 2013)

Inheritance:
autosomal dominant


HPO:

31
emery-dreifuss muscular dystrophy 7, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0070252
OMIM 56 614302
OMIM Phenotypic Series 56 PS310300
MeSH 43 D020389
UMLS 71 C3553060

Summaries for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 7, 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 7, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 7, ad, is related to pelger-huet anomaly and charcot-marie-tooth disease. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Related phenotypes are muscular dystrophy and proximal amyotrophy

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1.

OMIM : 56 Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300. (614302)

Related Diseases for Emery-Dreifuss Muscular Dystrophy 7, 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

Diseases related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 pelger-huet anomaly 9.5 SYNE1 SUN1
2 charcot-marie-tooth disease 9.5 SYNE1 SUN2 SUN1
3 x-linked emery-dreifuss muscular dystrophy 9.5 SYNE2 SYNE1
4 greenberg dysplasia 9.3 SYNE1 SUN2 SUN1
5 laminopathy 9.2 SYNE2 SUN2 SUN1
6 cardiomyopathy, dilated, 1h 9.2 TMEM43 SYNE1 SUN2 SUN1
7 myopathy 9.1 TMEM43 SYNE2 SYNE1 SUN2
8 emery-dreifuss muscular dystrophy 4, autosomal dominant 8.9 TMEM43 TMEM214 SYNE2 SYNE1
9 cardiomyopathy, dilated, 1a 8.8 TMEM43 SYNE2 SYNE1 SUN1
10 spinocerebellar ataxia, autosomal recessive 8 8.8 SYNE2 SYNE1 SUN2 SUN1
11 hutchinson-gilford progeria syndrome 8.7 SYNE2 SYNE1 SUN2 SUN1
12 emery-dreifuss muscular dystrophy 8.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
13 muscular dystrophy 8.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
14 dilated cardiomyopathy 8.6 TMEM43 SYNE2 SYNE1 SUN2
15 emery-dreifuss muscular dystrophy 3, autosomal recessive 8.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
16 charcot-marie-tooth disease, axonal, type 2b1 8.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
17 emery-dreifuss muscular dystrophy 1, x-linked 8.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1
18 emery-dreifuss muscular dystrophy 2, autosomal dominant 8.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1
19 muscular dystrophy, congenital, lmna-related 8.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1
20 emery-dreifuss muscular dystrophy 5, autosomal dominant 8.2 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1
21 myopathy, x-linked, with postural muscle atrophy 8.2 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscular dystrophy 31 HP:0003560
2 proximal amyotrophy 31 HP:0007126
3 atrial fibrillation 31 HP:0005110
4 proximal muscle weakness 31 HP:0003701
5 neck muscle weakness 31 HP:0000467
6 bradycardia 31 HP:0001662

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
arrhythmia
atrial fibrillation
bradycardia
cardiac conduction defects

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

Head And Neck Neck:
neck muscle weakness

Clinical features from OMIM:

614302

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 SUN1 SUN2 SYNE1 SYNE2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 29 TMEM43
2 Emery-Dreifuss Muscular Dystrophy 7, Ad 29

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Articles related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

# Title Authors PMID Year
1
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 6 56
21391237 2011
2
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
3
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004

Variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM43 NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys)SNV Pathogenic 40870 rs397514044 3:14172412-14172412 3:14130912-14130912
2 TMEM43 NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)SNV Conflicting interpretations of pathogenicity 40871 rs144811578 3:14172430-14172430 3:14130930-14130930
3 TMEM43 NM_024334.2(TMEM43):c.403G>A (p.Glu135Lys)SNV Uncertain significance 466418 rs140347235 3:14174056-14174056 3:14132556-14132556

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Glu85Lys VAR_069794 rs397514044
2 TMEM43 p.Ile91Val VAR_069795 rs144811578

Expression for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 SYNE2 SYNE1 SUN2 SUN1
2
Show member pathways
11.39 SYNE2 SYNE1 SUN2 SUN1

GO Terms for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1
2 cell GO:0005623 9.71 SYNE2 SYNE1 SUN2 SUN1
3 nuclear membrane GO:0031965 9.56 SYNE2 SYNE1 SUN2 SUN1
4 nuclear inner membrane GO:0005637 9.5 TMEM43 SUN2 SUN1
5 nuclear envelope GO:0005635 9.46 SYNE2 SYNE1 SUN2 SUN1
6 nuclear outer membrane GO:0005640 9.37 SYNE2 SYNE1
7 integral component of nuclear inner membrane GO:0005639 9.13 TMEM43 SUN2 SUN1
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 8.92 SYNE2 SYNE1 SUN2 SUN1

Biological processes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 meiotic cell cycle GO:0051321 9.43 SUN2 SUN1
2 centrosome localization GO:0051642 9.43 SYNE2 SUN2 SUN1
3 nuclear envelope organization GO:0006998 9.4 SUN2 SUN1
4 nuclear migration GO:0007097 9.37 SYNE2 SUN2
5 nuclear matrix anchoring at nuclear membrane GO:0090292 9.33 SYNE1 SUN2 SUN1
6 nuclear migration along microfilament GO:0031022 9.32 SYNE2 SUN2
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SYNE2 SUN2 SUN1
8 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SYNE2 SYNE1 SUN2 SUN1

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
2 lamin binding GO:0005521 8.8 SYNE1 SUN2 SUN1

Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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