EDMD1
MCID: MYP019
MIFTS: 24

Myopathy with Postural Muscle Atrophy, X-Linked (EDMD1) malady

Neuronal, Muscle categories

Summaries for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
47OMIM, 33MalaCards
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MalaCards: Myopathy with Postural Muscle Atrophy, X-Linked, also known as myopathy, x-linked, with postural muscle atrophy, is related to emery-dreifuss muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Myopathy with Postural Muscle Atrophy, X-Linked is FHL1 (four and a half LIM domains 1). Related mouse phenotype cardiovascular system.

Description from OMIM:47 300696,310300

Aliases & Classifications for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
49Orphanet, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
x-linked myopathy with postural muscle atrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive


Aliases & Descriptions:

myopathy with postural muscle atrophy, x-linked 20 22
myopathy, x-linked, with postural muscle atrophy 47 61
x-linked emery-dreifuss muscular dystrophy 49 61
x-linked myopathy with postural muscle atrophy 49
edmd1 49


External Ids:

ICD10 via Orphanet26 G71.0
UMLS via Orphanet62 C0751337

Related Diseases for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Myopathy with Postural Muscle Atrophy, X-Linked:



Diseases related to myopathy with postural muscle atrophy, x-linked

Clinical Features for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
47OMIM
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Clinical features from OMIM:

300696,310300

Clinical synopsis from OMIM:

300696

Drugs & Therapeutics for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
20GeneTests, 22GTR
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Genetic tests related to Myopathy with Postural Muscle Atrophy, X-Linked:

id Genetic test Affiliating Genes
1 Myopathy With Postural Muscle Atrophy, X-linked20 FHL1
2 X-linked Myopathy With Postural Muscle Atrophy22

Anatomical Context for Myopathy with Postural Muscle Atrophy, X-Linked

Animal Models for Myopathy with Postural Muscle Atrophy, X-Linked or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myopathy with Postural Muscle Atrophy, X-Linked:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1EMD, FHL1

Publications for Myopathy with Postural Muscle Atrophy, X-Linked

Genetic Variations for Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myopathy with Postural Muscle Atrophy, X-Linked:

63
id Symbol AA change Variation SNP ID
1FHL1p.Cys224TrpVAR_042605

Expression for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

Search GEO for disease gene expression data for Myopathy with Postural Muscle Atrophy, X-Linked.

Pathways for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

Compounds for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

GO Terms for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

Sources:
16Gene Ontology
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Biological processes related to Myopathy with Postural Muscle Atrophy, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.1EMD, FHL1

Products for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

  • Antibodies
  • Proteins
  • Lysates
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Sources for Myopathy with Postural Muscle Atrophy, X-Linked

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet