EDMD1
MCID: MYP019
MIFTS: 30

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

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

Summaries for Myopathy with Postural Muscle Atrophy, X-Linked

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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 myopathy. An important gene associated with Myopathy with Postural Muscle Atrophy, X-Linked is FHL1 (four and a half LIM domains 1). Related mouse phenotypes are behavior/neurological and cardiovascular system.

Description from OMIM:47 300696,310300

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

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


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 62
x-linked emery-dreifuss muscular dystrophy 49 62
x-linked myopathy with postural muscle atrophy 49
emerinopathy 49
edmd1 49


External Ids:

ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C0751337

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

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

Graphical network of diseases related to Myopathy with Postural Muscle Atrophy, X-Linked:



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

Symptoms for Myopathy with Postural Muscle Atrophy, X-Linked

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

300696

Clinical features from OMIM:

300696,310300

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

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

Drug clinical trials:

Search ClinicalTrials for Myopathy with Postural Muscle Atrophy, X-Linked

Search NIH Clinical Center for Myopathy with Postural Muscle Atrophy, X-Linked

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

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

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Myopathy with Postural Muscle Atrophy, X-Linked:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FHL1, EMD
2MP:00053858.8FHL1, EMD

Publications for Myopathy with Postural Muscle Atrophy, X-Linked

About this section

Variations for Myopathy with Postural Muscle Atrophy, X-Linked

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605

Clinvar genetic disease variations for Myopathy with Postural Muscle Atrophy, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic
3FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1FHL1, IVS4DS, G-A, +1single nucleotide variantPathogenic

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section
Sources:
16Gene Ontology
See all sources

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

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy with Postural Muscle Atrophy, 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