MCID: MYP056
MIFTS: 25

Myopathy, X-Linked, with Postural Muscle Atrophy malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

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

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

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 50 68 66
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 50 68 12
X-Linked Myopathy with Postural Muscle Atrophy 52 25
Xmpma 23 68
 
Myopathy with Postural Muscle Atrophy, X-Linked 23
Edmd6 68
Emd6 68

Characteristics:

Orphanet epidemiological data:

52
x-linked myopathy with postural muscle atrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly

HPO:

62
myopathy, x-linked, with postural muscle atrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 300696
Orphanet52 ORPHA178461
ICD10 via Orphanet29 G71.0
MeSH37 D020389

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

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UniProtKB/Swiss-Prot:68 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 fhl1-related emery-dreifuss muscular dystrophy, x-linked and myopathy, and has symptoms including back pain, back pain and short neck. An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1).

OMIM:50 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
1fhl1-related emery-dreifuss muscular dystrophy, x-linked11.5
2myopathy10.0

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

UMLS symptoms related to Myopathy, X-Linked, with Postural Muscle Atrophy:


back pain

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-Linked25 23 FHL1

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:

68
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605rs122458141
2FHL1p.Cys209ArgVAR_075357rs122459149
3FHL1p.Cys276TyrVAR_075358
4FHL1p.Val280MetVAR_075359rs267606811

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet