XMPMA
MCID: MYP056
MIFTS: 38

Myopathy, X-Linked, with Postural Muscle Atrophy (XMPMA)

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

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

MalaCards integrated aliases for Myopathy, X-Linked, with Postural Muscle Atrophy:

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 56 12 73 39 71
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 56 12 73 29 13 71
Xmpma 56 12 58 73
Myopathy with Postural Muscle Atrophy, X-Linked 29 6
X-Linked Myopathy with Postural Muscle Atrophy 58 36
X-Linked Emery-Dreifuss Muscular Dystrophy 6 12 15
Edmd6 12 73
Emd6 73

Characteristics:

Orphanet epidemiological data:

58
x-linked myopathy with postural muscle atrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly;

OMIM:

56
Miscellaneous:
progressive disorder
onset in late childhood or adulthood

Inheritance:
x-linked recessive


HPO:

31
myopathy, x-linked, with postural muscle atrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070251
OMIM 56 300696
OMIM Phenotypic Series 56 PS310300
KEGG 36 H00697
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C2678055
Orphanet 58 ORPHA178461
UMLS 71 C2678055 C2749106

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

UniProtKB/Swiss-Prot : 73 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 scapuloperoneal myopathy, x-linked dominant and emery-dreifuss muscular dystrophy, and has symptoms including back pain An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1). Related phenotypes are short neck and respiratory insufficiency

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of FHL1 on chromosome Xq26.3.

OMIM : 56 X-linked myopathy with postural muscle atrophy (XMPMA) is 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 (Windpassinger et al., 2008). The clinical features of Emery-Dreifuss muscular dystrophy (see EDMD1; 310300) classically include the triad of muscle weakness, joint contractures, and cardiac involvement, thus showing clinical overlap with XMPMA (Gueneau et al., 2009). (300696)

KEGG : 36 X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA.

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

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 scapuloperoneal myopathy, x-linked dominant 30.4 FHL1 EMD
2 emery-dreifuss muscular dystrophy 29.6 TMEM43 SUN2 FHL1 EMD
3 myopathy 10.2
4 x-linked emery-dreifuss muscular dystrophy 10.1 FHL1 EMD
5 charcot-marie-tooth disease, axonal, type 2b1 10.0 TMEM43 EMD
6 autosomal dominant limb-girdle muscular dystrophy 9.9 MYOT EMD
7 rigid spine muscular dystrophy 1 9.9 MYOT FHL1 EMD
8 cardiomyopathy, dilated, 1a 9.9 TMEM43 MYOT EMD
9 emerinopathy 9.9 SUN2 EMD
10 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.8 SUN2 EMD
11 cardiomyopathy, dilated, 1h 9.8 SUN2 EMD
12 laminopathy 9.8 SUN2 EMD
13 muscular dystrophy, becker type 9.8 MYOT EMD
14 reducing body myopathy 9.7 NFATC1 MYOT LIM2 FHL1 ESCO2
15 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.7 TMEM43 SUN2 EMD
16 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.7 TMEM43 SUN2 EMD
17 emery-dreifuss muscular dystrophy 1, x-linked 9.7 TMEM43 SUN2 EMD
18 scapuloperoneal myopathy 9.6 SLC9A7 MYOT LIM2 FHL1 ESCO2
19 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 TMEM43 SUN2 EMD
20 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.5 TMEM43 SUN2 FHL1 EMD
21 muscular dystrophy, congenital, lmna-related 9.5 TMEM43 SUN2 FHL1 EMD
22 left ventricular noncompaction 9.5 TMEM43 MYOT FHL2
23 arrhythmogenic right ventricular cardiomyopathy 9.3 TMEM43 FHL2 EMD
24 muscular dystrophy 9.2 TMEM43 SUN2 MYOT FHL1 EMD
25 neuromuscular disease 9.1 SUN2 MYOT EMD
26 dilated cardiomyopathy 8.6 TMEM43 SUN2 MYOT FHL2 EMD

Graphical network of the top 20 diseases related to Myopathy, X-Linked, with Postural Muscle Atrophy:



Diseases related to Myopathy, X-Linked, with Postural Muscle Atrophy

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

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 respiratory insufficiency 31 HP:0002093
3 flexion contracture 31 HP:0001371
4 hypertrophic cardiomyopathy 31 HP:0001639
5 arrhythmia 31 HP:0011675
6 spinal rigidity 31 HP:0003306
7 back pain 31 HP:0003418
8 scapular winging 31 HP:0003691
9 rimmed vacuoles 31 HP:0003805
10 proximal muscle weakness 31 HP:0003701
11 elevated serum creatine kinase 31 HP:0003236
12 scapuloperoneal weakness 31 HP:0003704

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck
limited range of neck motion

Cardiovascular Heart:
hypertrophic cardiomyopathy
conduction defects
arrhythmias

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Skeletal:
joint contractures

Respiratory Larynx:
vocal cord palsy

Respiratory:
respiratory insufficiency

Skeletal Spine:
back pain
rigid spine
bent spine

Muscle Soft Tissue:
rimmed vacuoles
scapuloperoneal weakness
muscle weakness, proximal, progressive
pseudoathletic appearance with muscle hypertrophy before disease onset
muscle atrophy later in the disease
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

300696

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


back pain

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

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

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

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

# Genetic test Affiliating Genes
1 Myopathy with Postural Muscle Atrophy, X-Linked 29 FHL1
2 Emery-Dreifuss Muscular Dystrophy 6, X-Linked 29

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

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

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

(show all 14)
# Title Authors PMID Year
1
Consequences of mutations within the C terminus of the FHL1 gene. 61 56 6
19687455 2009
2
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 61 56 6
18179888 2008
3
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. 56 6
20186852 2010
4
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 56 6
19716112 2009
5
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
6
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
7
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. 6
21629301 2011
8
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
9
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2019
10
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61
24634512 2014
11
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
12
XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation. 61
22140610 2011
13
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). 61
22053194 2011
14
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 61
18952429 2008

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

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

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FHL1 NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)SNV Pathogenic 11548 rs122458141 X:135290784-135290784 X:136208625-136208625
2 FHL1 NM_001159699.2(FHL1):c.428_430dup (p.Thr144_Cys145insIle)duplication Pathogenic 11549 X:135289998-135289999 X:136207839-136207840
3 FHL1 NM_001159699.2(FHL1):c.737-479G>ASNV Pathogenic 11559 rs267606811 X:135291551-135291551 X:136209392-136209392
4 FHL1 NM_001159699.2(FHL1):c.736+1G>ASNV Pathogenic 11560 rs786200914 X:135290801-135290801 X:136208642-136208642
5 FHL1 NM_001159699.2(FHL1):c.108del (p.Gln37fs)deletion Pathogenic 410317 rs1060502840 X:135288651-135288651 X:136206492-136206492
6 FHL1 NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)deletion Pathogenic 469630 rs1556639151 X:135290037-135290041 X:136207878-136207882
7 FHL1 NM_001159699.2(FHL1):c.360dup (p.Phe121fs)duplication Pathogenic 537356 rs1556638935 X:135289329-135289330 X:136207170-136207171
8 FHL1 NM_001159699.2(FHL1):c.607_608GT[3] (p.Val205fs)short repeat Pathogenic 577855 rs1569530588 X:135290670-135290671 X:136208511-136208512
9 FHL1 NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)duplication Pathogenic 569904 rs1569530437 X:135289975-135289976 X:136207816-136207817
10 FHL1 NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)duplication Likely pathogenic 643604 X:135290733-135290734 X:136208574-136208575
11 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)SNV Likely pathogenic 689729 X:135290067-135290067 X:136207908-136207908
12 FHL1 NM_001159699.2(FHL1):c.661dup (p.Asp221fs)duplication Likely pathogenic 537351 rs1556639379 X:135290723-135290724 X:136208564-136208565
13 FHL1 NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)SNV Conflicting interpretations of pathogenicity 222635 rs869025431 X:135292105-135292105 X:136209946-136209946
14 FHL1 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)SNV Uncertain significance 198467 rs754308516 X:135292080-135292080 X:136209921-136209921
15 FHL1 NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)SNV Uncertain significance 222634 rs756434530 X:135289310-135289310 X:136207151-136207151
16 FHL1 NM_001449.4(FHL1):c.157-?_*1334+?dupduplication Uncertain significance 239006
17 FHL1 NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)SNV Uncertain significance 239008 rs878854460 X:135290007-135290007 X:136207848-136207848
18 FHL1 NM_001159699.2(FHL1):c.204+6G>ASNV Uncertain significance 537359 rs763404867 X:135288753-135288753 X:136206594-136206594
19 FHL1 NM_001159699.2(FHL1):c.300_302CAA[1] (p.Asn101del)short repeat Uncertain significance 537355 rs1237021594 X:135289269-135289271 X:136207110-136207112
20 FHL1 NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly)SNV Uncertain significance 537350 rs122458144 X:135290076-135290076 X:136207917-136207917
21 FHL1 NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)duplication Uncertain significance 410318 rs1314023088 X:135290051-135290052 X:136207892-136207893
22 FHL1 NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)SNV Uncertain significance 286484 rs377693754 X:135290105-135290105 X:136207946-136207946
23 FHL1 NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)SNV Uncertain significance 289087 rs146125558 X:135288596-135288596 X:136206437-136206437
24 FHL1 NM_001159699.2(FHL1):c.737-520G>ASNV Uncertain significance 391709 rs199818971 X:135291510-135291510 X:136209351-136209351
25 FHL1 NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)SNV Uncertain significance 537357 rs1556639771 X:135292167-135292167 X:136210008-136210008
26 FHL1 NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)SNV Uncertain significance 546307 rs1556638703 X:135288710-135288710 X:136206551-136206551
27 TTN NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)SNV Uncertain significance 548486 rs775496863 2:179483506-179483506 2:178618779-178618779
28 FHL1 NM_001159699.2(FHL1):c.499G>A (p.Val167Met)SNV Uncertain significance 548468 rs1332573754 X:135290070-135290070 X:136207911-136207911
29 FHL1 NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)SNV Uncertain significance 573175 rs1277704131 X:135289330-135289330 X:136207171-136207171
30 FHL1 NM_001159699.2(FHL1):c.416A>G (p.His139Arg)SNV Uncertain significance 537353 rs267606812 X:135289987-135289987 X:136207828-136207828
31 FHL1 NM_001159699.2(FHL1):c.786C>A (p.His262Gln)SNV Uncertain significance 537348 rs141231353 X:135292079-135292079 X:136209920-136209920
32 FHL1 NM_001159699.2(FHL1):c.852G>C (p.Gln284His)SNV Uncertain significance 537349 rs774024150 X:135292145-135292145 X:136209986-136209986
33 FHL1 NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)SNV Uncertain significance 565801 rs1569530250 X:135288664-135288664 X:136206505-136206505
34 FHL1 NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile)SNV Uncertain significance 581366 rs746834335 X:135289209-135289209 X:136207050-136207050
35 FHL1 NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg)SNV Uncertain significance 580682 rs1569530450 X:135289995-135289995 X:136207836-136207836
36 FHL1 NM_001159699.2(FHL1):c.703_705AAG[3] (p.Lys236dup)short repeat Uncertain significance 580234 rs1569530609 X:135290766-135290767 X:136208607-136208608
37 FHL1 NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)SNV Uncertain significance 573991 rs1569530811 X:135292077-135292077 X:136209918-136209918
38 FHL1 NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)SNV Uncertain significance 578144 rs1569530823 X:135292096-135292096 X:136209937-136209937
39 FHL1 NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)SNV Uncertain significance 570625 rs1569530825 X:135292104-135292104 X:136209945-136209945
40 FHL1 NM_001159699.2(FHL1):c.817G>A (p.Val273Met)SNV Uncertain significance 569001 rs190006104 X:135292110-135292110 X:136209951-136209951
41 FHL1 NC_000023.10:g.(?_135288556)_(135293528_?)dupduplication Uncertain significance 644267 X:135288556-135293528 X:136206397-136211369
42 FHL1 NM_001159699.2(FHL1):c.737-2dupduplication Uncertain significance 648125 X:135292027-135292028 X:136209868-136209869
43 FHL1 NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)SNV Uncertain significance 537352 rs1343871742 X:135289193-135289193 X:136207034-136207034
44 FHL1 NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)SNV Uncertain significance 537354 rs139625615 X:135289223-135289223 X:136207064-136207064
45 FHL1 NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys)SNV Uncertain significance 571836 rs1406462908 X:135290687-135290687 X:136208528-136208528
46 FHL1 NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)SNV Uncertain significance 568751 rs56391414 X:135292087-135292087 X:136209928-136209928
47 FHL1 NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu)SNV Uncertain significance 565665 rs747922027 X:135292149-135292149 X:136209990-136209990
48 FHL1 NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr)SNV Uncertain significance 581461 rs869025431 X:135292105-135292105 X:136209946-136209946
49 FHL1 NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)SNV Uncertain significance 665560 X:135288602-135288602 X:136206443-136206443
50 FHL1 NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys)SNV Uncertain significance 650616 X:135289185-135289185 X:136207026-136207026

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

73
# Symbol AA change Variation ID SNP ID
1 FHL1 p.Cys224Trp VAR_042605 rs122458141
2 FHL1 p.Cys209Arg VAR_075357 rs122459149
3 FHL1 p.Cys276Tyr VAR_075358
4 FHL1 p.Val280Met VAR_075359 rs267606811

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

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

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

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

Cellular components related to Myopathy, X-Linked, with Postural Muscle Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.33 SUN2 SENP2 EMD
2 integral component of nuclear inner membrane GO:0005639 8.96 TMEM43 SUN2
3 nuclear inner membrane GO:0005637 8.8 TMEM43 SUN2 EMD

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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