MCID: MYP056
MIFTS: 27

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 51 69 67
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 51 69 12 67
Xmpma 24 53 69
X-Linked Myopathy with Postural Muscle Atrophy 53 26
 
Myopathy with Postural Muscle Atrophy, X-Linked 24
Edmd6 69
Emd6 69

Characteristics:

Orphanet epidemiological data:

53
xmpma:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly

HPO:

63
myopathy, x-linked, with postural muscle atrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM51 300696
Orphanet53 ORPHA178461
ICD10 via Orphanet30 G71.0
MeSH38 D020389

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

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UniProtKB/Swiss-Prot:69 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 emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including short neck, flexion contracture and hypertrophic cardiomyopathy. An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1).

OMIM:51 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-linked11.4
2emery-dreifuss muscular dystrophy 1, x-linked10.9
3myopathy9.9

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

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

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 short neck63 HP:0000470
2 flexion contracture63 HP:0001371
3 hypertrophic cardiomyopathy63 HP:0001639
4 respiratory insufficiency63 HP:0002093
5 elevated serum creatine phosphokinase63 HP:0003236
6 spinal rigidity63 HP:0003306
7 back pain63 HP:0003418
8 scapular winging63 HP:0003691
9 proximal muscle weakness63 HP:0003701
10 scapuloperoneal weakness63 HP:0003704
11 rimmed vacuoles63 HP:0003805
12 arrhythmia63 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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Drugs for Myopathy, X-Linked, with Postural Muscle Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Antibiotics, AntitubercularPhase 46972
2Anti-Bacterial AgentsPhase 410884

Interventional clinical trials:

idNameStatusNCT IDPhase
1Stacking Exercises Aid the Decline in FVC and Sick TimeActive, not recruitingNCT01999075Phase 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-Linked26 24 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:

69
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)SNVPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenicChr na, -1: -1
3FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)SNVPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1NM_001449.4(FHL1): c.688+1G> ASNVPathogenicrs786200914GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet