EDMD1
MCID: EMR004
MIFTS: 12

Emery-Dreifuss Muscular Dystrophy, X-Linked (EDMD1) malady

Genetic diseases, Rare diseases, Muscle diseases categories
Download this MalaCard

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
43NIH Rare Diseases, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Emery-dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. by adulthood, most people with  emery-dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. emery-dreifuss muscular dystrophy is caused by mutations in the emd and lmna genes. it can be inherited in an x-linked, autosomal dominant, or autosomal recessive fashion. last updated: 8/16/2013

MalaCards: Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as muscular dystrophy, tardive emery-dreifuss type, with contractures, is related to emd-related emery-dreifuss muscular dystrophy, x-linked and fhl1-related emery-dreifuss muscular dystrophy, x-linked. Affiliated tissues include heart.

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
43NIH Rare Diseases, 62UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Aliases & Descriptions:

emery-dreifuss muscular dystrophy, x-linked 43
muscular dystrophy, tardive emery-dreifuss type, with contractures 43
x-linked emery-dreifuss muscular dystrophy 62
edmd1 43


Related Diseases for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Emery-Dreifuss Muscular Dystrophy 1, X-Linked family:

emery-dreifuss muscular dystrophy, x-linked Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1emd-related emery-dreifuss muscular dystrophy, x-linked10.7
2fhl1-related emery-dreifuss muscular dystrophy, x-linked10.7
3myopathy with postural muscle atrophy, x-linked10.2
4emery-dreifuss muscular dystrophy 1, x-linked10.1

Symptoms for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy, X-Linked

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Anatomical Context for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

33
Heart

Animal Models for Emery-Dreifuss Muscular Dystrophy, X-Linked or affiliated genes

About this section

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy, X-Linked.

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section

Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet