Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Cardiovascular diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070252

OMIM ⁵⁶ 614302

OMIM Phenotypic Series ⁵⁶ PS310300

MeSH ⁴³ D020389

MedGen ⁴¹ C3553060 CN168055

SNOMED-CT via HPO ⁶⁸ 193225000 249939004 263681008 more

UMLS ⁷¹ C3553060

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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)

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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:

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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 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

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

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

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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

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

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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	Liang WC...Hayashi YK	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	Narayanaswami P...Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine	25313375	2014
3	Emery-Dreifuss Muscular Dystrophy ⁶	Bonne G...Ben Yaou R	20301609	2004

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Genes for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Genes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM43	Transmembrane Protein 43	Protein Coding	1326.75	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21391237
2	SUN2	Sad1 And UNC84 Domain Containing 2	Protein Coding	6.91	DISEASES inferred ¹⁵
3	SYNE1	Spectrin Repeat Containing Nuclear Envelope Protein 1	Protein Coding	6.79	DISEASES inferred ¹⁵
4	SUN1	Sad1 And UNC84 Domain Containing 1	Protein Coding	6.72	DISEASES inferred ¹⁵
5	SYNE2	Spectrin Repeat Containing Nuclear Envelope Protein 2	Protein Coding	6.58	DISEASES inferred ¹⁵
6	TMEM214	Transmembrane Protein 214	Protein Coding	6.39	DISEASES inferred ¹⁵

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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

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Expression for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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

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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	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.42	SYNE2 SYNE1 SUN2 SUN1
2	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	11.39	SYNE2 SYNE1 SUN2 SUN1

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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

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Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Related Diseases for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

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:

Genes for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

Genes related to Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (1 elite genes):

Variations for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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

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

Expression 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:

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:

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

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

Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant