MCID: SCP010
MIFTS: 32

Scapuloperoneal Myopathy

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

Aliases & Classifications for Scapuloperoneal Myopathy

MalaCards integrated aliases for Scapuloperoneal Myopathy:

Name: Scapuloperoneal Myopathy 12 36 6 44 15 70
Myopathy, Scapuloperoneal 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0060253
KEGG 36 H00656
MeSH 44 C536624
UMLS 70 C2931268

Summaries for Scapuloperoneal Myopathy

KEGG : 36 Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene.

MalaCards based summary : Scapuloperoneal Myopathy, also known as myopathy, scapuloperoneal, is related to foot drop and hyaline body myopathy. An important gene associated with Scapuloperoneal Myopathy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction.

Disease Ontology : 12 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.

Related Diseases for Scapuloperoneal Myopathy

Diseases in the Scapuloperoneal Myopathy family:

Scapuloperoneal Myopathy, Myh7-Related

Diseases related to Scapuloperoneal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 foot drop 30.4 MYOT FHL1 ACTA1
2 hyaline body myopathy 29.9 MYOT MYH7 MYH6 ACTA1
3 myopathy, x-linked, with postural muscle atrophy 29.9 MYOT LIM2 FHL2 FHL1
4 atrial standstill 1 29.8 MYOT MYH7 MYH6 MHRT
5 emery-dreifuss muscular dystrophy 29.8 TOR1AIP1 MYOT FHL1
6 myopathy 29.8 TOR1AIP1 MYOT MYH7 MYH6 MHRT FHL1
7 scapuloperoneal spinal muscular atrophy 29.8 UBE3B LHX5
8 muscular dystrophy 29.5 TOR1AIP1 MYOT MYH7 FHL1 ACTA1
9 dilated cardiomyopathy 28.5 NRAP MYOT MYH7 MYH6 MHRT FHL2
10 scapuloperoneal myopathy, x-linked dominant 11.8
11 scapuloperoneal myopathy, myh7-related 11.7
12 sick sinus syndrome 3 10.3 MYH6 LOC114827851
13 first-degree atrioventricular block 10.2 MYH7 MHRT
14 mobitz type ii atrioventricular block 10.2 MYH7 MYH6
15 mitochondrial dna depletion syndrome 12b 10.2 MYH7 MYH6
16 atrial septal defect 3 10.2 MYH6 LOC114827851
17 tricuspid valve disease 10.1 MYH7 MYH6
18 mitral valve insufficiency 10.1 MYH7 MYH6
19 myopathy, congenital, with fiber-type disproportion 10.1 MYH7 MHRT ACTA1
20 wolff-parkinson-white syndrome 10.1 MYH7 MYH6 MHRT
21 cardiomyopathy, dilated, 1b 10.1 MYH7 MYH6 MHRT
22 congenital structural myopathy 10.1 MYOT MYH7 ACTA1
23 muscular disease 10.1 MYOT MYH7 MYH6
24 cardiac conduction defect 10.1 MYH7 MYH6
25 miyoshi muscular dystrophy 10.1 MYOT MYH7 MYH6
26 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 TOR1AIP1 MYOT
27 muscle tissue disease 10.0 MYOT MYH7 MYH6
28 ebstein anomaly 10.0 MYH7 MYH6
29 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 TOR1AIP1 MYOT
30 myopathy, distal, 1 10.0 MYH7 MYH6 MHRT LOC114827851
31 restrictive cardiomyopathy 10.0 MYH7 MYH6 MHRT ACTA1
32 rigid spine muscular dystrophy 1 10.0 MYOT MYH7 FHL1 ACTA1
33 cardiomyopathy, familial hypertrophic, 1 10.0 MYH7 MYH6 MHRT FHL1
34 stormorken syndrome 10.0
35 myopathy, myosin storage, autosomal recessive 10.0
36 3-methylglutaconic aciduria, type iii 10.0
37 myopathy, scapulohumeroperoneal 10.0
38 nemaline myopathy 10.0
39 peripheral nervous system disease 10.0
40 neuropathy 10.0
41 batten-turner congenital myopathy 10.0 MYOT MYH7 MYH6 ACTA1
42 autosomal dominant distal myopathy 10.0 MYOT MYH7 MHRT ACTA1
43 tibial muscular dystrophy 9.9 MYOT MYH7 FHL2
44 danon disease 9.9 MYH7 MYH6
45 muscular dystrophy, congenital, lmna-related 9.8 MYOT MYH7 MYH6 FHL1 ACTA1
46 congenital fiber-type disproportion 9.8 MYOT MYH7 MYH6 MHRT ACTA1
47 myopathy, myofibrillar, 4 9.8 NRAP MYOT
48 neuromuscular disease 9.8 MYOT MYH7 MYH6 MHRT ACTA1
49 myopathy, myofibrillar, 9, with early respiratory failure 9.8 NRAP MYOT MYH7
50 left ventricular noncompaction 9.5 MYOT MYH7 MYH6 MHRT LOC114827851 FHL2

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy:



Diseases related to Scapuloperoneal Myopathy

Symptoms & Phenotypes for Scapuloperoneal Myopathy

Drugs & Therapeutics for Scapuloperoneal Myopathy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy

Cochrane evidence based reviews: scapuloperoneal myopathy

Genetic Tests for Scapuloperoneal Myopathy

Anatomical Context for Scapuloperoneal Myopathy

Publications for Scapuloperoneal Myopathy

Articles related to Scapuloperoneal Myopathy:

(show all 26)
# Title Authors PMID Year
1
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. 6 61
30260394 2019
2
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. 61 6
21629301 2011
3
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 61 6
18179901 2008
4
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 6
25274776 2015
5
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 6
19181672 2009
6
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 6
18179888 2008
7
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome. 61
32757300 2021
8
Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report. 61
32993534 2020
9
Autosomal dominant distal myopathy due to a novel ACTA1 mutation. 61
28606400 2017
10
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. 61
27409453 2016
11
Redundant Information in Text and Incorrect Reference. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 61
26258744 2015
12
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. 61
25246303 2015
13
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 61
25938801 2015
14
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 61
25666907 2015
15
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61
24634512 2014
16
Reducing body myopathy and other FHL1-related muscular disorders. 61
22172421 2011
17
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
18
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. 61
21310615 2011
19
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. 61
20633900 2010
20
SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis. 61
19643733 2009
21
Consequences of mutations within the C terminus of the FHL1 gene. 61
19687455 2009
22
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 61
18952429 2008
23
Familial scapuloperoneal myopathy and mitochondrial DNA defect. 61
10567817 1999
24
Adult onset scapuloperoneal myopathy: diagnostic value of nerve morphometry and multiple muscle biopsies. 61
3404187 1988
25
Scapuloperoneal myopathy. 61
6568938 1984
26
Adult onset scapuloperoneal myopathy. 61
1202162 1975

Variations for Scapuloperoneal Myopathy

ClinVar genetic disease variations for Scapuloperoneal Myopathy:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FHL1 NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) SNV Pathogenic 11547 rs122458140 GRCh37: X:135289984-135289984
GRCh38: X:136207825-136207825
2 FHL1 NM_001159699.2(FHL1):c.428_430dup (p.Thr144_Cys145insIle) Duplication Pathogenic 11549 rs1603271580 GRCh37: X:135289998-135289999
GRCh38: X:136207839-136207840
3 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 GRCh37: X:135290067-135290067
GRCh38: X:136207908-136207908
4 MYH7 NM_000257.4(MYH7):c.-47G>T SNV Uncertain significance 312921 rs886050425 GRCh37: 14:23903441-23903441
GRCh38: 14:23434232-23434232
5 MYH7 NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) SNV Uncertain significance 312904 rs753137666 GRCh37: 14:23892887-23892887
GRCh38: 14:23423678-23423678
6 MYH7 NM_000257.4(MYH7):c.-39C>A SNV Uncertain significance 312920 rs886050424 GRCh37: 14:23903433-23903433
GRCh38: 14:23434224-23434224
7 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) SNV Uncertain significance 312899 rs886050418 GRCh37: 14:23887430-23887430
GRCh38: 14:23418221-23418221
8 MYH7 NM_000257.4(MYH7):c.733-3C>T SNV Uncertain significance 222732 rs765068619 GRCh37: 14:23900693-23900693
GRCh38: 14:23431484-23431484
9 MYH7 , MHRT NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) SNV Uncertain significance 191728 rs745414245 GRCh37: 14:23886744-23886744
GRCh38: 14:23417535-23417535
10 FHL1 NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) SNV Uncertain significance 816855 rs1603270381 GRCh37: X:135288572-135288572
GRCh38: X:136206413-136206413
11 FHL1 NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) SNV Uncertain significance 568751 rs56391414 GRCh37: X:135292087-135292087
GRCh38: X:136209928-136209928
12 MYH7 NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) SNV Uncertain significance 312889 rs886050415 GRCh37: 14:23884281-23884281
GRCh38: 14:23415072-23415072
13 MYH7 NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) SNV Uncertain significance 312918 rs879196018 GRCh37: 14:23901901-23901901
GRCh38: 14:23432692-23432692
14 MYH7 NM_000257.4(MYH7):c.2922+6G>C SNV Uncertain significance 312907 rs781192476 GRCh37: 14:23893110-23893110
GRCh38: 14:23423901-23423901
15 MYH7 , LOC114827851 , MYH6 NM_002471.3(MYH6):c.-64G>C SNV Likely benign 312886 rs79618123 GRCh37: 14:23877479-23877479
GRCh38: 14:23408270-23408270
16 MYH7 , LOC114827851 SNV Likely benign 369066 rs142094404 GRCh37: 14:23877490-23877490
GRCh38: 14:23408281-23408281
17 MYH7 NM_000257.4(MYH7):c.*105T>C SNV Likely benign 312888 rs200550717 GRCh37: 14:23881958-23881958
GRCh38: 14:23412749-23412749
18 MYH7 NM_000257.4(MYH7):c.*20G>A SNV Likely benign 188649 rs45548631 GRCh37: 14:23882043-23882043
GRCh38: 14:23412834-23412834
19 MYH7 NM_000257.4(MYH7):c.153C>T (p.Ile51=) SNV Likely benign 181166 rs373145667 GRCh37: 14:23902789-23902789
GRCh38: 14:23433580-23433580
20 MYH7 NM_000257.4(MYH7):c.2769C>T (p.Asn923=) SNV Likely benign 42931 rs36211716 GRCh37: 14:23893269-23893269
GRCh38: 14:23424060-23424060
21 MYH7 NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) SNV Likely benign 42949 rs138294643 GRCh37: 14:23891478-23891478
GRCh38: 14:23422269-23422269
22 FHL1 NM_001159699.2(FHL1):c.737-8C>T SNV Benign 198466 rs2076705 GRCh37: X:135292022-135292022
GRCh38: X:136209863-136209863
23 MYH6 , MYH7 NM_000257.4(MYH7):c.*113G>A SNV Benign 312887 rs17794387 GRCh37: 14:23881950-23881950
GRCh38: 14:23412741-23412741

Expression for Scapuloperoneal Myopathy

Search GEO for disease gene expression data for Scapuloperoneal Myopathy.

Pathways for Scapuloperoneal Myopathy

Pathways related to Scapuloperoneal Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

Pathways related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 MYH7 MYH6 ARPC1A
2
Show member pathways
11.48 MYH7 MYH6 ARPC1A ACTA1
3 10.88 MYH7 MYH6 ACTA1
4 10.86 ARPC1A ACTA1
5 10.86 UBE3B FHL2 ACTA1

GO Terms for Scapuloperoneal Myopathy

Cellular components related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.43 MYH7 MYH6 ACTA1
2 myosin filament GO:0032982 9.37 MYH7 MYH6
3 sarcomere GO:0030017 9.33 MYH7 MYH6 ACTA1
4 muscle myosin complex GO:0005859 9.32 MYH7 MYH6
5 myofibril GO:0030016 9.13 NRAP MYH7 MYH6
6 Z disc GO:0030018 9.02 NRAP MYOT MYH7 MYH6 FHL2

Biological processes related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.48 MYH7 MYH6
2 ATP metabolic process GO:0046034 9.46 MYH7 MYH6
3 regulation of heart rate GO:0002027 9.43 MYH7 MYH6
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.4 MYH7 MYH6
5 regulation of the force of heart contraction GO:0002026 9.37 MYH7 MYH6
6 striated muscle contraction GO:0006941 9.32 MYH7 MYH6
7 cardiac muscle hypertrophy in response to stress GO:0014898 9.26 MYH7 MYH6
8 adult heart development GO:0007512 9.16 MYH7 MYH6
9 muscle filament sliding GO:0030049 9.13 MYH7 MYH6 ACTA1
10 muscle contraction GO:0006936 8.92 MYOT MYH7 MYH6 ACTA1

Molecular functions related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.26 MYH7 MYH6
2 actin filament binding GO:0051015 9.26 NRAP MYH7 MYH6 ARPC1A
3 actin-dependent ATPase activity GO:0030898 9.16 MYH7 MYH6
4 actin binding GO:0003779 9.02 NRAP MYOT MYH7 MYH6 ARPC1A

Sources for Scapuloperoneal Myopathy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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