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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614302

Disease Ontology ¹² DOID:0070252

MedGen ⁴² C3553060 CN168055

MeSH ⁴⁴ D020389

SNOMED-CT via HPO ⁶⁹ 263681008 48867003 193225000 more

UMLS ⁷³ C3553060

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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)

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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

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 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

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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

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

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

⁴¹

Bone

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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	1329.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

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

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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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human 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

MalaCards organs/tissues related to 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