MCID: MYP056
MIFTS: 21

Myopathy, X-Linked, with Postural Muscle Atrophy malady

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

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

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Sources:
46OMIM, 20GeneTests, 9diseasecard, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

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

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 46 20
X-Linked Myopathy with Postural Muscle Atrophy 48 22
 
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 46 9


Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked myopathy with postural muscle atrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM46 300696
Orphanet48 178461
ICD10 via Orphanet26 G71.0

Summaries for Myopathy, X-Linked, with Postural Muscle Atrophy

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OMIM:46 X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood.... (300696) more...

MalaCards based summary: Myopathy, X-Linked, with Postural Muscle Atrophy, also known as x-linked myopathy with postural muscle atrophy, is related to myopathy, and has symptoms including short neck, flexion contracture and x-linked recessive inheritance. An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (four and a half LIM domains 1).

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

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Diseases related to Myopathy, X-Linked, with Postural Muscle Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5

Symptoms for Myopathy, X-Linked, with Postural Muscle Atrophy

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Symptoms by clinical synopsis from OMIM:

300696

Clinical features from OMIM:

300696

HPO human phenotypes related to Myopathy, X-Linked, with Postural Muscle Atrophy:

(show all 14)
id Description Frequency HPO Source Accession
1 short neck HP:0000470
2 flexion contracture HP:0001371
3 x-linked recessive inheritance HP:0001419
4 hypertrophic cardiomyopathy HP:0001639
5 respiratory insufficiency HP:0002093
6 elevated serum creatine phosphokinase HP:0003236
7 spinal rigidity HP:0003306
8 back pain HP:0003418
9 progressive disorder HP:0003676
10 scapular winging HP:0003691
11 proximal muscle weakness HP:0003701
12 scapuloperoneal weakness HP:0003704
13 rimmed vacuoles HP:0003805
14 arrhythmia HP:0011675

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

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Drug clinical trials:

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

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

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

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Genetic tests related to Myopathy, X-Linked, with Postural Muscle Atrophy:

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, X-Linked, with Postural Muscle Atrophy

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

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Publications for Myopathy, X-Linked, with Postural Muscle Atrophy

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

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

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

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

5
id Gene Variation 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, X-Linked, with Postural Muscle Atrophy

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

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

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

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

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Sources for Myopathy, X-Linked, with Postural Muscle Atrophy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet