MCID: EMR019
MIFTS: 19

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular 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 57 75 29 6 73
Emery-Dreifuss Muscular Dystrophy 7, Ad 57 13
Edmd7 57 75
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant 40
Emd7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
emery-dreifuss muscular dystrophy 7, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

OMIM 57 614302
MeSH 44 D020389
UMLS 73 C3553060

Summaries for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 emery-dreifuss muscular dystrophy 7, ad. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43). Related phenotypes are muscular dystrophy and neck muscle weakness

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
neck muscle weakness

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

Cardiovascular Heart:
arrhythmia
atrial fibrillation
cardiac conduction defects
bradycardia


Clinical features from OMIM:

614302

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscular dystrophy 32 HP:0003560
2 neck muscle weakness 32 HP:0000467
3 atrial fibrillation 32 HP:0005110
4 proximal amyotrophy 32 HP:0007126
5 proximal muscle weakness 32 HP:0003701
6 bradycardia 32 HP:0001662

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

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

Publications for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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