EDMD1
MCID: MYP019
MIFTS: 30

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

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Myopathy with Postural Muscle Atrophy, X-Linked

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48OMIM, 34MalaCards
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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 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:48 300696,310300

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

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 21 23
myopathy, x-linked, with postural muscle atrophy 48 63
x-linked emery-dreifuss muscular dystrophy 50 63
x-linked myopathy with postural muscle atrophy 50
emerinopathy 50
edmd1 50


External Ids:

ICD10 via Orphanet27 G71.0
UMLS via Orphanet64 C0751337

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

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18GeneCards, 19GeneDecks
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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

Symptoms for Myopathy with Postural Muscle Atrophy, X-Linked

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

300696

Clinical features from OMIM:

300696,310300

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests, 23GTR
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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-Linked21 FHL1
2 X-Linked Myopathy with Postural Muscle Atrophy23

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

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

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Sources:
38MGI
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MGI Mouse Phenotypes related to Myopathy with Postural Muscle Atrophy, X-Linked:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FHL1, EMD
2MP:00053858.8FHL1, EMD

Publications for Myopathy with Postural Muscle Atrophy, X-Linked

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Variations for Myopathy with Postural Muscle Atrophy, X-Linked

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy with Postural Muscle Atrophy, X-Linked:

65
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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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

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

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

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Sources:
17Gene 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:0075179.1FHL1, EMD

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

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Sources for Myopathy with Postural Muscle Atrophy, X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet