XMPMA
MCID: MYP056
MIFTS: 37

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 57 12 74 40 72
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 57 12 74 29 13 72
Xmpma 57 12 59 74
Myopathy with Postural Muscle Atrophy, X-Linked 29 6
X-Linked Myopathy with Postural Muscle Atrophy 59 37
X-Linked Emery-Dreifuss Muscular Dystrophy 6 12 15
Edmd6 12 74
Emd6 74

Characteristics:

Orphanet epidemiological data:

59
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:

57
Miscellaneous:
progressive disorder
onset in late childhood or adulthood

Inheritance:
x-linked recessive


HPO:

32
myopathy, x-linked, with postural muscle atrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070251
KEGG 37 H00697
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C2678055
Orphanet 59 ORPHA178461
UMLS 72 C2678055 C2749106

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

UniProtKB/Swiss-Prot : 74 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 hemophagocytic lymphohistiocytosis, familial, 1 and scapuloperoneal myopathy, x-linked dominant, 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 : 57 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 : 37
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:

# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 1 10.2
2 scapuloperoneal myopathy, x-linked dominant 10.2
3 emery-dreifuss muscular dystrophy 10.2
4 myopathy 10.2
5 baraitser-winter syndrome 9.6 SLC9A7 SLC9A6
6 syndromic intellectual disability 9.4 SLC9A7 SLC9A6
7 scapuloperoneal myopathy 8.4 SLC9A7 SLC9A6 NFATC1 FHL1

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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 respiratory insufficiency 32 HP:0002093
3 flexion contracture 32 HP:0001371
4 hypertrophic cardiomyopathy 32 HP:0001639
5 arrhythmia 32 HP:0011675
6 spinal rigidity 32 HP:0003306
7 back pain 32 HP:0003418
8 scapular winging 32 HP:0003691
9 rimmed vacuoles 32 HP:0003805
10 proximal muscle weakness 32 HP:0003701
11 elevated serum creatine kinase 32 HP:0003236
12 scapuloperoneal weakness 32 HP:0003704

Symptoms via clinical synopsis from OMIM:

57
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 13)
# Title Authors PMID Year
1
Consequences of mutations within the C terminus of the FHL1 gene. 38 8 71
19687455 2009
2
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 38 8 71
18179888 2008
3
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. 8 71
20186852 2010
4
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 8 71
19716112 2009
5
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. 71
25313375 2014
6
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). 71
25173338 2014
7
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. 71
21629301 2011
8
Emery-Dreifuss Muscular Dystrophy 71
20301609 2004
9
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 38
24634512 2014
10
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 38
21932316 2011
11
XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation. 38
22140610 2011
12
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). 38
22053194 2011
13
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 38
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 74)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FHL1 NM_001159699.2(FHL1): c.108del (p.Gln37fs) deletion Pathogenic rs1060502840 X:135288651-135288651 X:136206492-136206492
2 FHL1 NM_001159699.2(FHL1): c.466_470del (p.Ser156fs) deletion Pathogenic rs1556639151 X:135290037-135290041 X:136207878-136207882
3 FHL1 NM_001159699.2(FHL1): c.360dup (p.Phe121fs) duplication Pathogenic rs1556638935 X:135289330-135289330 X:136207171-136207171
4 FHL1 NM_001159699.2(FHL1): c.720C> G (p.Cys240Trp) single nucleotide variant Pathogenic rs122458141 X:135290784-135290784 X:136208625-136208625
5 FHL1 FHL1, 3-BP INS, 381ATC insertion Pathogenic
6 FHL1 NM_001159702.3(FHL1): c.838G> A (p.Val280Met) single nucleotide variant Pathogenic rs267606811 X:135291551-135291551 X:136209392-136209392
7 FHL1 NM_001159699.2(FHL1): c.736+1G> A single nucleotide variant Pathogenic rs786200914 X:135290801-135290801 X:136208642-136208642
8 FHL1 NM_001159699.2(FHL1): c.607_608GT[3] (p.Val205fs) short repeat Pathogenic X:135290677-135290678 X:136208518-136208519
9 FHL1 NM_001159699.2(FHL1): c.406_409dup (p.Val137fs) duplication Pathogenic X:135289977-135289980 X:136207818-136207821
10 FHL1 NM_001159699.2(FHL1): c.670_671dup (p.Cys225fs) duplication Likely pathogenic X:135290733-135290734 X:136208575-136208576
11 FHL1 NM_001159699.2(FHL1): c.661dup (p.Asp221fs) duplication Likely pathogenic rs1556639379 X:135290725-135290725 X:136208566-136208566
12 FHL1 NM_001159699.2(FHL1): c.812G> C (p.Cys271Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs869025431 X:135292105-135292105 X:136209946-136209946
13 FHL1 NM_001159702.3(FHL1): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs367592190 X:135291473-135291473 X:136209314-136209314
14 FHL1 NM_001159699.2(FHL1): c.360C> G (p.Cys120Trp) single nucleotide variant Uncertain significance X:135289330-135289330 X:136207171-136207171
15 FHL1 NM_001159699.2(FHL1): c.534C> G (p.Cys178Trp) single nucleotide variant Uncertain significance rs377693754 X:135290105-135290105 X:136207946-136207946
16 FHL1 NC_000023.10: g.(?_135288556)_(135293528_?)dup duplication Uncertain significance X:135288556-135293528 X:136206397-136211369
17 FHL1 NM_001159699.2(FHL1): c.737-2dup duplication Uncertain significance X:135292027-135292028 X:136209869-136209869
18 FHL1 NM_001159699.2(FHL1): c.53C> T (p.Ala18Val) single nucleotide variant Uncertain significance rs146125558 X:135288596-135288596 X:136206437-136206437
19 FHL1 NM_001159699.2(FHL1): c.623C> G (p.Ser208Cys) single nucleotide variant Uncertain significance X:135290687-135290687 X:136208528-136208528
20 FHL1 NM_001159699.2(FHL1): c.794G> C (p.Cys265Ser) single nucleotide variant Uncertain significance X:135292087-135292087 X:136209928-136209928
21 FHL1 NM_001159699.2(FHL1): c.856C> G (p.Gln286Glu) single nucleotide variant Uncertain significance X:135292149-135292149 X:136209990-136209990
22 FHL1 NM_001159699.2(FHL1): c.812G> A (p.Cys271Tyr) single nucleotide variant Uncertain significance X:135292105-135292105 X:136209946-136209946
23 FHL1 NM_001159699.2(FHL1): c.59A> G (p.Lys20Arg) single nucleotide variant Uncertain significance X:135288602-135288602 X:136206443-136206443
24 FHL1 NM_001159699.2(FHL1): c.215A> G (p.Tyr72Cys) single nucleotide variant Uncertain significance X:135289185-135289185 X:136207026-136207026
25 FHL1 NM_001159699.2(FHL1): c.278A> G (p.Asn93Ser) single nucleotide variant Uncertain significance X:135289248-135289248 X:136207089-136207089
26 FHL1 NM_001159699.2(FHL1): c.284C> A (p.Thr95Asn) single nucleotide variant Uncertain significance X:135289254-135289254 X:136207095-136207095
27 FHL1 NM_001159699.2(FHL1): c.400A> G (p.Lys134Glu) single nucleotide variant Uncertain significance X:135289971-135289971 X:136207812-136207812
28 FHL1 NM_001159699.2(FHL1): c.427T> C (p.Phe143Leu) single nucleotide variant Uncertain significance X:135289998-135289998 X:136207839-136207839
29 FHL1 NM_001159699.2(FHL1): c.121C> T (p.His41Tyr) single nucleotide variant Uncertain significance X:135288664-135288664 X:136206505-136206505
30 FHL1 NM_001159699.2(FHL1): c.239C> T (p.Thr80Ile) single nucleotide variant Uncertain significance X:135289209-135289209 X:136207050-136207050
31 FHL1 NM_001159699.2(FHL1): c.424T> C (p.Cys142Arg) single nucleotide variant Uncertain significance X:135289995-135289995 X:136207836-136207836
32 FHL1 NM_001159699.2(FHL1): c.703_705AAG[3] (p.Lys236dup) short repeat Uncertain significance X:135290770-135290772 X:136208611-136208613
33 FHL1 NM_001159699.2(FHL1): c.784C> T (p.His262Tyr) single nucleotide variant Uncertain significance X:135292077-135292077 X:136209918-136209918
34 FHL1 NM_001159699.2(FHL1): c.803G> A (p.Cys268Tyr) single nucleotide variant Uncertain significance X:135292096-135292096 X:136209937-136209937
35 FHL1 NM_001159699.2(FHL1): c.811T> C (p.Cys271Arg) single nucleotide variant Uncertain significance X:135292104-135292104 X:136209945-136209945
36 FHL1 NM_001159699.2(FHL1): c.817G> A (p.Val273Met) single nucleotide variant Uncertain significance X:135292110-135292110 X:136209951-136209951
37 FHL1 NM_001159699.2(FHL1): c.787G> A (p.Asp263Asn) single nucleotide variant Uncertain significance rs754308516 X:135292080-135292080 X:136209921-136209921
38 FHL1 NM_001159699.2(FHL1): c.340T> A (p.Ser114Thr) single nucleotide variant Uncertain significance rs756434530 X:135289310-135289310 X:136207151-136207151
39 FHL1 NM_001159699.2(FHL1): c.436A> G (p.Ser146Gly) single nucleotide variant Uncertain significance rs878854460 X:135290007-135290007 X:136207848-136207848
40 FHL1 NM_001449.4(FHL1): c.157-?_*1334+?dup duplication Uncertain significance
41 FHL1 NM_001159699.2(FHL1): c.223C> T (p.Arg75Cys) single nucleotide variant Uncertain significance rs1343871742 X:135289193-135289193 X:136207034-136207034
42 FHL1 NM_001159699.2(FHL1): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs139625615 X:135289223-135289223 X:136207064-136207064
43 FHL1 NM_001159699.2(FHL1): c.874T> A (p.Cys292Ser) single nucleotide variant Uncertain significance rs1556639771 X:135292167-135292167 X:136210008-136210008
44 FHL1 NM_001159699.2(FHL1): c.167G> A (p.Cys56Tyr) single nucleotide variant Uncertain significance rs1556638703 X:135288710-135288710 X:136206551-136206551
45 TTN NM_001267550.2(TTN): c.46771T> C (p.Tyr15591His) single nucleotide variant Uncertain significance rs775496863 2:179483506-179483506 2:178618779-178618779
46 FHL1 NM_001159699.2(FHL1): c.499G> A (p.Val167Met) single nucleotide variant Uncertain significance rs1332573754 X:135290070-135290070 X:136207911-136207911
47 FHL1 NM_001159699.2(FHL1): c.416A> G (p.His139Arg) single nucleotide variant Uncertain significance rs267606812 X:135289987-135289987 X:136207828-136207828
48 FHL1 NM_001159699.2(FHL1): c.204+6G> A single nucleotide variant Uncertain significance rs763404867 X:135288753-135288753 X:136206594-136206594
49 FHL1 NM_001159699.2(FHL1): c.300_302CAA[1] (p.Asn101del) short repeat Uncertain significance rs1237021594 X:135289273-135289275 X:136207114-136207116
50 FHL1 NM_001159699.2(FHL1): c.505T> G (p.Cys169Gly) single nucleotide variant Uncertain significance rs122458144 X:135290076-135290076 X:136207917-136207917

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

74
# 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 recycling endosome GO:0055037 8.96 SLC9A7 SLC9A6
2 recycling endosome membrane GO:0055038 8.62 SLC9A7 SLC9A6

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.43 SLC9A7 SLC9A6
2 potassium ion transmembrane transport GO:0071805 9.4 SLC9A7 SLC9A6
3 proton transmembrane transport GO:1902600 9.37 SLC9A7 SLC9A6
4 cation transport GO:0006812 9.32 SLC9A7 SLC9A6
5 sodium ion transmembrane transport GO:0035725 9.26 SLC9A7 SLC9A6
6 regulation of intracellular pH GO:0051453 9.16 SLC9A7 SLC9A6
7 regulation of pH GO:0006885 8.96 SLC9A7 SLC9A6
8 sodium ion import across plasma membrane GO:0098719 8.62 SLC9A7 SLC9A6

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

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.26 SLC9A7 SLC9A6
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A7 SLC9A6
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A7 SLC9A6
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A7 SLC9A6

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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