XMPMA
MCID: MYP056
MIFTS: 27

Myopathy, X-Linked, with Postural Muscle Atrophy (XMPMA) 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 52 70 68
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 52 70 12 68
Xmpma 24 54 70
X-Linked Myopathy with Postural Muscle Atrophy 54 27
 
Myopathy with Postural Muscle Atrophy, X-Linked 24
Edmd6 70
Emd6 70

Characteristics:

Orphanet epidemiological data:

54
xmpma:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly

HPO:

64
myopathy, x-linked, with postural muscle atrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 300696
Orphanet54 ORPHA178461
ICD10 via Orphanet31 G71.0
MeSH39 D020389

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

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UniProtKB/Swiss-Prot:70 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 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:52 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 & Phenotypes 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:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 short neck64 HP:0000470
2 flexion contracture64 HP:0001371
3 hypertrophic cardiomyopathy64 HP:0001639
4 respiratory insufficiency64 HP:0002093
5 elevated serum creatine phosphokinase64 HP:0003236
6 spinal rigidity64 HP:0003306
7 back pain64 HP:0003418
8 scapular winging64 HP:0003691
9 proximal muscle weakness64 HP:0003701
10 scapuloperoneal weakness64 HP:0003704
11 rimmed vacuoles64 HP:0003805
12 arrhythmia64 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 47180
2Anti-Bacterial AgentsPhase 411226

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-Linked27 24 FHL1

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

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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:

70
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, 381ATCinsertionPathogenic
3FHL1NM_ 001159702.2(FHL1): c.838G> A (p.Val280Met)SNVPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1NM_ 001449.4(FHL1): c.688+1G> ASNVPathogenicrs786200914GRCh37Chr X, 135290801: 135290801
5FHL1NM_ 001449.4(FHL1): c.60delG (p.Gln21Lysfs)deletionPathogenicrs1060502840GRCh38Chr X, 136206492: 136206492

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet