XMPMA
MCID: MYP056
MIFTS: 45

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

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 72 39 70
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 57 12 72 29 13 70
Xmpma 57 12 58 72
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 72
Emd6 72

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®:

57 (Updated 05-Apr-2021)
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® 57 300696
OMIM Phenotypic Series 57 PS310300
KEGG 36 H00697
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C2678055
Orphanet 58 ORPHA178461
UMLS 70 C2678055 C2749106

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

UniProtKB/Swiss-Prot : 72 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 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), and among its related pathways/superpathways are Meiosis and Nuclear Envelope Reassembly. 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) (Updated 05-Apr-2021)

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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 scapuloperoneal myopathy 29.6 MYOT LIM2 FHL2 FHL1
2 scapuloperoneal myopathy, x-linked dominant 29.3 FHL1 EMD
3 myopathy 28.0 TMEM43 SYNE2 SYNE1 SUN2 MYOT LMNA
4 emery-dreifuss muscular dystrophy 27.3 TMEM43 TMEM38A TMEM214 SYNE2 SYNE1 SUN2
5 foot drop 10.2 MYOT FHL1
6 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TMEM43 LMNA
7 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TMEM43 LMNA
8 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TMEM43 LMNA
9 left bundle branch hemiblock 10.1 TMEM43 LMNA
10 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 SYNE2 LMNA
11 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 TMEM43 LMNA
12 reynolds syndrome 10.0 SUN2 LMNA
13 muscular dystrophy, limb-girdle, autosomal dominant 2 10.0 MYOT LMNA
14 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 MYOT LMNA
15 arrhythmogenic right ventricular dysplasia, familial, 5 9.9 TMEM43 EMD
16 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 MYOT LMNA
17 myopathy, myofibrillar, 1 9.9 MYOT LMNA
18 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 MYOT LMNA
19 first-degree atrioventricular block 9.8 LMNA EMD
20 tibial muscular dystrophy 9.8 MYOT FHL2
21 lipodystrophy, familial partial, type 5 9.7 LMNA EMD
22 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.7 SYNE2 LMNA EMD
23 emerinopathy 9.6 SUN2 LMNA EMD
24 autosomal dominant limb-girdle muscular dystrophy 9.6 MYOT LMNA EMD
25 bethlem myopathy 1 9.6 MYOT LMNA EMD
26 muscular disease 9.6 MYOT LMNA EMD
27 congenital fiber-type disproportion 9.6 MYOT LMNA EMD
28 myofibrillar myopathy 9.6 XIRP1 MYOT LMNA FHL1
29 muscle tissue disease 9.6 MYOT LMNA EMD
30 osteopoikilosis 9.5 SYNE2 PLPP7 LMNA EMD
31 buschke-ollendorff syndrome 9.5 SYNE2 SYNE1 LMNA EMD
32 pelger-huet anomaly 9.5 SYNE2 SYNE1 LMNA EMD
33 laminopathy 9.5 SYNE2 SUN2 LMNA EMD
34 rigid spine muscular dystrophy 1 9.5 MYOT LMNA FHL1 EMD
35 atrial standstill 1 9.5 TMEM43 MYOT LMNA EMD
36 walker-warburg syndrome 9.4 MYOT LMNA EMD
37 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.4 TMEM43 SYNE2 SYNE1 SUN2 EMD
38 arrhythmogenic right ventricular cardiomyopathy 9.4 TMEM43 LMNA FHL2 EMD
39 x-linked emery-dreifuss muscular dystrophy 9.4 SYNE2 SYNE1 LMNA FHL1 EMD
40 neuromuscular disease 9.4 SUN2 MYOT LMNA EMD
41 left ventricular noncompaction 9.3 XIRP1 TMEM43 MYOT LMNA FHL2
42 greenberg dysplasia 9.3 SYNE2 SYNE1 SUN2 LMNA EMD
43 spinocerebellar ataxia, autosomal recessive 8 9.3 SYNE2 SYNE1 SUN2 LMNA EMD
44 hutchinson-gilford progeria syndrome 9.3 SYNE2 SYNE1 SUN2 LMNA EMD
45 hypertrophic cardiomyopathy 9.3 TMEM43 LMNA FHL2 FHL1 EMD
46 charcot-marie-tooth disease, axonal, type 2b1 9.2 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
47 emery-dreifuss muscular dystrophy 1, x-linked 9.2 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
48 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
49 cardiomyopathy, dilated, 1a 9.1 TMEM43 SYNE2 SYNE1 MYOT LMNA EMD
50 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.1 TMEM43 TMEM214 SYNE2 SYNE1 LMNA 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:

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 elevated serum creatine kinase 31 HP:0003236
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 arrhythmia 31 HP:0011675
11 proximal muscle weakness 31 HP:0003701
12 scapuloperoneal weakness 31 HP:0003704

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


back pain

MGI Mouse Phenotypes related to Myopathy, X-Linked, with Postural Muscle Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 EMD FHL1 FHL2 LMNA PLPP7 SYNE1
2 muscle MP:0005369 9.28 EMD FHL1 LMNA PLPP7 SUN2 SYNE1

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 23)
# Title Authors PMID Year
1
Consequences of mutations within the C terminus of the FHL1 gene. 6 57 61
19687455 2009
2
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 61 6 57
18179888 2008
3
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. 6 57
20186852 2010
4
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 57 6
19716112 2009
5
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61 6
24634512 2014
6
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. 6
28694073 2017
7
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1. 6
26857240 2016
8
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. 6
25246303 2015
9
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 6
25274776 2015
10
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. 6
25191266 2014
11
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. 6
24114807 2013
12
Novel FHL1 mutation in a family with reducing body myopathy. 6
23169582 2013
13
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. 6
22523091 2012
14
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. 6
21629301 2011
15
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. 6
20633900 2010
16
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. 6
20571991 2010
17
Novel FHL1 mutations in fatal and benign reducing body myopathy. 6
19171836 2009
18
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 6
18179901 2008
19
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2020
20
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
21
XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation. 61
22140610 2011
22
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). 61
22053194 2011
23
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 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FHL1 NM_001159699.2(FHL1):c.428_430dup (p.Thr144_Cys145insIle) Duplication Pathogenic 11549 rs1603271580 GRCh37: X:135289998-135289999
GRCh38: X:136207839-136207840
2 FHL1 NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) SNV Pathogenic 11556 rs122459148 GRCh37: X:135292182-135292182
GRCh38: X:136210023-136210023
3 FHL1 NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) SNV Pathogenic 11557 rs122459149 GRCh37: X:135290737-135290737
GRCh38: X:136208578-136208578
4 FHL1 NM_001159699.2(FHL1):c.865dup (p.Cys289fs) Duplication Pathogenic 11558 rs1603273697 GRCh37: X:135292156-135292157
GRCh38: X:136209997-136209998
5 FHL1 NM_001159699.2(FHL1):c.737-479G>A SNV Pathogenic 11559 rs267606811 GRCh37: X:135291551-135291551
GRCh38: X:136209392-136209392
6 FHL1 NM_001159699.2(FHL1):c.736+1G>A SNV Pathogenic 11560 rs786200914 GRCh37: X:135290801-135290801
GRCh38: X:136208642-136208642
7 FHL1 NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) Deletion Pathogenic 469630 rs1556639151 GRCh37: X:135290037-135290041
GRCh38: X:136207878-136207882
8 FHL1 NM_001159699.2(FHL1):c.108del (p.Gln37fs) Deletion Pathogenic 410317 rs1060502840 GRCh37: X:135288651-135288651
GRCh38: X:136206492-136206492
9 FHL1 NM_001159699.2(FHL1):c.360dup (p.Phe121fs) Duplication Pathogenic 537356 rs1556638935 GRCh37: X:135289329-135289330
GRCh38: X:136207170-136207171
10 FHL1 NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) Duplication Pathogenic 569904 rs1569530437 GRCh37: X:135289975-135289976
GRCh38: X:136207816-136207817
11 FHL1 NM_001159699.2(FHL1):c.613_614del (p.Val205fs) Microsatellite Pathogenic 577855 rs1569530588 GRCh37: X:135290670-135290671
GRCh38: X:136208511-136208512
12 FHL1 NM_001159699.2(FHL1):c.661dup (p.Asp221fs) Duplication Pathogenic 537351 rs1556639379 GRCh37: X:135290723-135290724
GRCh38: X:136208564-136208565
13 FHL1 NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) SNV Pathogenic 222635 rs869025431 GRCh37: X:135292105-135292105
GRCh38: X:136209946-136209946
14 FHL1 NM_001159699.2(FHL1):c.379+1G>A SNV Pathogenic 834991 GRCh37: X:135289350-135289350
GRCh38: X:136207191-136207191
15 FHL1 NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter) SNV Pathogenic 843672 GRCh37: X:135289984-135289984
GRCh38: X:136207825-136207825
16 FHL1 NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs) Duplication Pathogenic 845088 GRCh37: X:135290706-135290707
GRCh38: X:136208547-136208548
17 FHL1 NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg) SNV Pathogenic 935026 GRCh37: X:135289319-135289319
GRCh38: X:136207160-136207160
18 FHL1 NM_001159699.2(FHL1):c.810dup (p.Cys271fs) Duplication Pathogenic 944147 GRCh37: X:135292097-135292098
GRCh38: X:136209938-136209939
19 FHL1 NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) SNV Pathogenic 945159 GRCh37: X:135289186-135289186
GRCh38: X:136207027-136207027
20 FHL1 NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) Duplication Pathogenic 598380 rs1603273685 GRCh37: X:135292130-135292131
GRCh38: X:136209971-136209972
21 FHL1 NM_001159699.2(FHL1):c.419_420del (p.Lys140fs) Deletion Pathogenic 941351 GRCh37: X:135289989-135289990
GRCh38: X:136207830-136207831
22 FHL1 NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) SNV Pathogenic 497823 rs1556639109 GRCh37: X:135289985-135289985
GRCh38: X:136207826-136207826
23 FHL1 NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp) SNV Likely pathogenic 943902 GRCh37: X:135290069-135290069
GRCh38: X:136207910-136207910
24 FHL1 NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) SNV Likely pathogenic 11548 rs122458141 GRCh37: X:135290784-135290784
GRCh38: X:136208625-136208625
25 FHL1 NM_001159699.2(FHL1):c.205-1G>A SNV Likely pathogenic 967181 GRCh37: X:135289174-135289174
GRCh38: X:136207015-136207015
26 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 GRCh37: X:135290067-135290067
GRCh38: X:136207908-136207908
27 FHL1 NM_001159699.2(FHL1):c.736+2T>G SNV Likely pathogenic 851689 GRCh37: X:135290802-135290802
GRCh38: X:136208643-136208643
28 FHL1 NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) Duplication Likely pathogenic 643604 rs1603272263 GRCh37: X:135290733-135290734
GRCh38: X:136208574-136208575
29 FHL1 NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu) SNV Uncertain significance 646065 rs1603271576 GRCh37: X:135289998-135289998
GRCh38: X:136207839-136207839
30 FHL1 NM_001159699.2(FHL1):c.737-2dup Duplication Uncertain significance 648125 rs752156219 GRCh37: X:135292027-135292028
GRCh38: X:136209868-136209869
31 FHL1 NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys) SNV Uncertain significance 650616 rs758269641 GRCh37: X:135289185-135289185
GRCh38: X:136207026-136207026
32 FHL1 NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn) SNV Uncertain significance 659750 rs764567944 GRCh37: X:135289254-135289254
GRCh38: X:136207095-136207095
33 FHL1 NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser) SNV Uncertain significance 660940 rs761300463 GRCh37: X:135289248-135289248
GRCh38: X:136207089-136207089
34 FHL1 NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr) SNV Uncertain significance 578144 rs1569530823 GRCh37: X:135292096-135292096
GRCh38: X:136209937-136209937
35 FHL1 NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup) Microsatellite Uncertain significance 580234 rs1569530609 GRCh37: X:135290766-135290767
GRCh38: X:136208607-136208608
36 FHL1 NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile) SNV Uncertain significance 581366 rs746834335 GRCh37: X:135289209-135289209
GRCh38: X:136207050-136207050
37 FHL1 NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr) SNV Uncertain significance 581461 rs869025431 GRCh37: X:135292105-135292105
GRCh38: X:136209946-136209946
38 FHL1 NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu) SNV Uncertain significance 835587 GRCh37: X:135290040-135290040
GRCh38: X:136207881-136207881
39 FHL1 NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser) SNV Uncertain significance 836894 GRCh37: X:135289292-135289292
GRCh38: X:136207133-136207133
40 FHL1 NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr) SNV Uncertain significance 842529 GRCh37: X:135292184-135292184
GRCh38: X:136210025-136210025
41 FHL1 NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) SNV Uncertain significance 665560 rs1230410861 GRCh37: X:135288602-135288602
GRCh38: X:136206443-136206443
42 FHL1 NM_001159699.2(FHL1):c.416A>G (p.His139Arg) SNV Uncertain significance 537353 rs267606812 GRCh37: X:135289987-135289987
GRCh38: X:136207828-136207828
43 FHL1 NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr) SNV Uncertain significance 537354 rs139625615 GRCh37: X:135289223-135289223
GRCh38: X:136207064-136207064
44 FHL1 NM_001159699.2(FHL1):c.379+4C>T SNV Uncertain significance 851897 GRCh37: X:135289353-135289353
GRCh38: X:136207194-136207194
45 FHL1 NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser) SNV Uncertain significance 937251 GRCh37: X:135292161-135292161
GRCh38: X:136210002-136210002
46 FHL1 NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe) SNV Uncertain significance 939820 GRCh37: X:135288611-135288611
GRCh38: X:136206452-136206452
47 FHL1 NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg) SNV Uncertain significance 949362 GRCh37: X:135288653-135288653
GRCh38: X:136206494-136206494
48 FHL1 NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly) SNV Uncertain significance 960605 GRCh37: X:135292158-135292158
GRCh38: X:136209999-136209999
49 FHL1 NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg) SNV Uncertain significance 570625 rs1569530825 GRCh37: X:135292104-135292104
GRCh38: X:136209945-136209945
50 FHL1 NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp) SNV Uncertain significance 573175 rs1277704131 GRCh37: X:135289330-135289330
GRCh38: X:136207171-136207171

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 SYNE2 SYNE1 SUN2 LMNA
2
Show member pathways
10.47 LMNA EMD

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 focal adhesion GO:0005925 9.73 XIRP1 SYNE2 FHL2 FHL1
2 Z disc GO:0030018 9.58 SYNE2 MYOT FHL2
3 nuclear inner membrane GO:0005637 9.5 TMEM43 SUN2 EMD
4 sarcoplasmic reticulum membrane GO:0033017 9.46 TMEM38A SYNE2
5 nuclear outer membrane GO:0005640 9.43 SYNE2 SYNE1 EMD
6 nuclear membrane GO:0031965 9.43 TMEM38A SYNE2 SYNE1 SUN2 LMNA EMD
7 integral component of nuclear inner membrane GO:0005639 9.37 TMEM43 SUN2
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.33 SYNE2 SYNE1 SUN2
9 nuclear envelope GO:0005635 9.1 SYNE2 SYNE1 SUN2 PLPP7 LMNA EMD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.58 LMNA FHL1 EMD
2 nucleus organization GO:0006997 9.49 SYNE1 LMNA
3 nuclear envelope organization GO:0006998 9.48 SUN2 LMNA
4 centrosome localization GO:0051642 9.46 SYNE2 SUN2
5 nuclear migration GO:0007097 9.43 SYNE2 SUN2
6 mitotic nuclear envelope reassembly GO:0007084 9.37 LMNA EMD
7 ventricular cardiac muscle cell development GO:0055015 9.32 LMNA FHL2
8 nuclear membrane organization GO:0071763 9.26 TMEM43 EMD
9 nuclear matrix anchoring at nuclear membrane GO:0090292 9.16 SYNE1 SUN2
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 8.96 SYNE2 SUN2
11 nuclear migration along microfilament GO:0031022 8.62 SYNE2 SUN2

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 actin filament binding GO:0051015 9.33 XIRP1 SYNE2 SYNE1
2 actin binding GO:0003779 9.02 XIRP1 SYNE2 SYNE1 MYOT EMD
3 lamin binding GO:0005521 8.96 SYNE1 SUN2

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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