EDMD7
MCID: EMR019
MIFTS: 20

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 58 12 76 30 6 74
Edmd7 58 12 76
Emery-Dreifuss Muscular Dystrophy 7, Ad 58 13
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant 41
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7 12
Emd7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
emery-dreifuss muscular dystrophy 7, autosomal dominant:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070252
OMIM 58 614302
MeSH 45 D020389
UMLS 74 C3553060

Summaries for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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, is also known as edmd7. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43). Affiliated tissues include bone, and related phenotypes are proximal muscle weakness and neck muscle weakness

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

OMIM : 58 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

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 33 HP:0003701
2 neck muscle weakness 33 HP:0000467
3 muscular dystrophy 33 HP:0003560
4 proximal amyotrophy 33 HP:0007126
5 atrial fibrillation 33 HP:0005110
6 bradycardia 33 HP:0001662

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TMEM43

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

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant:

42
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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

# Title Authors Year
1
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. ( 21391237 )
2011

Variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Glu85Lys VAR_069794 rs397514044
2 TMEM43 p.Ile91Val VAR_069795 rs144811578

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.253G> A (p.Glu85Lys) single nucleotide variant Pathogenic rs397514044 GRCh37 Chromosome 3, 14172412: 14172412
2 TMEM43 NM_024334.2(TMEM43): c.253G> A (p.Glu85Lys) single nucleotide variant Pathogenic rs397514044 GRCh38 Chromosome 3, 14130912: 14130912
3 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh37 Chromosome 3, 14172430: 14172430
4 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh38 Chromosome 3, 14130930: 14130930
5 TMEM43 NM_024334.2(TMEM43): c.403G> A (p.Glu135Lys) single nucleotide variant Uncertain significance rs140347235 GRCh38 Chromosome 3, 14132556: 14132556
6 TMEM43 NM_024334.2(TMEM43): c.403G> A (p.Glu135Lys) single nucleotide variant Uncertain significance rs140347235 GRCh37 Chromosome 3, 14174056: 14174056

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

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

Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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