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 57 12 75 29 6 73
Edmd7 57 12 75
Emery-Dreifuss Muscular Dystrophy 7, Ad 57 13
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant 40
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7 12
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:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614302
Disease Ontology 12 DOID:0070252
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 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 muscular dystrophy

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

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
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

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

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

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

41
Bone

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
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

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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