MCID: MYP056
MIFTS: 26

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:
49OMIM, 22GeneTests, 67UniProtKB/Swiss-Prot, 11diseasecard, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Myopathy, X-Linked, with Postural Muscle Atrophy:

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 49 22 67
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 49 11 67
X-Linked Myopathy with Postural Muscle Atrophy 51 24
 
Xmpma 22 67
Edmd6 67
Emd6 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
x-linked myopathy with postural muscle atrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 300696
Orphanet51 178461
ICD10 via Orphanet28 G71.0
MeSH36 D020389

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

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UniProtKB/Swiss-Prot:67 Emery-Dreifuss muscular dystrophy 6, X-linked: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Myopathy, X-linked, with postural muscle atrophy: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder.

MalaCards based summary: Myopathy, X-Linked, with Postural Muscle Atrophy, also known as emery-dreifuss muscular dystrophy 6, x-linked, is related to myopathy and emery-dreifuss muscular dystrophy 1, x-linked, 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).

OMIM:49 X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood.... (300696) more...

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
1myopathy10.1
2emery-dreifuss muscular dystrophy 1, x-linked10.1
3fhl1-related emery-dreifuss muscular dystrophy, x-linked10.1

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 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Stacking Exercises Aid the Decline in FVC and Sick TimeRecruitingNCT01999075Phase 4

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-Linked22 FHL1
2 X-Linked Myopathy with Postural Muscle Atrophy24

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:

67
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
4FHL1NM_001449.4(FHL1): c.688+1G> Asingle nucleotide variantPathogenicrs786200914GRCh37Chr X, 135290801: 135290801

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet