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 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:

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 ⁵⁸ 614302

MeSH ⁴⁵ D020389

MedGen ⁴³ C3553060 CN168055

SNOMED-CT via HPO ⁷⁰ 193225000 249939004 263681008 more

UMLS ⁷⁴ C3553060

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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). 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 : 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)

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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	Emery-Dreifuss Muscular Dystrophy, Dominant Type

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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:

³³ (show all 6)

#	Description	HPO Source Accession
1	proximal muscle weakness ³³	HP:0003701
2	muscular dystrophy ³³	HP:0003560
3	neck muscle weakness ³³	HP:0000467
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

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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 ³⁰	TMEM43

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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

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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	1329.09	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	21391237

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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

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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

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

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Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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:

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

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

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

ClinVar 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

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

Sources for Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant