MCID: SCP009
MIFTS: 29

Scapuloperoneal Myopathy, X-Linked Dominant malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

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Aliases & Descriptions for Scapuloperoneal Myopathy, X-Linked Dominant:

Name: Scapuloperoneal Myopathy, X-Linked Dominant 49 11 45 65 67
X-Linked Dominant Scapuloperoneal Myopathy 45 22 24
Spm 45 22 67
 
Scapuloperoneal Myopathy, Fhl1-Related 45
Scapuloperoneal Myopathy Fhl1-Related 67


Classifications:



External Ids:

OMIM49 300695
MedGen34 C2678061
MeSH36 D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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NIH Rare Diseases:45 X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. in some individuals, facial muscles may also be affected. while the progression varies from case to case, it tends to be relatively slow. some cases of scapuloperoneal myopathy are caused by mutations in the fhl1 gene. these cases are inherited in an x-linked dominant manner. treatment is symptomatic and supportive. last updated: 8/9/2012

MalaCards based summary: Scapuloperoneal Myopathy, X-Linked Dominant, also known as x-linked dominant scapuloperoneal myopathy, is related to hepatocellular carcinoma and secondary progressive multiple sclerosis, and has symptoms including hyporeflexia, flexion contracture and x-linked dominant inheritance. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:67 Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.

Description from OMIM:49 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

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Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma10.5
2secondary progressive multiple sclerosis10.4
3sleep disorder10.4
4scapuloperoneal myopathy10.4
5myopathy10.4
6pick disease10.4
7parkinson disease, late-onset10.4
8multiple sclerosis, disease progression, modifier of10.4
9autoimmune disease 210.4
10multiple sclerosis 210.4
11autoimmune disease of the nervous system10.4
12demyelinating disease10.4
13hypersensitivity reaction type ii disease10.4
14neuromuscular disease10.4
15peripheral nervous system disease10.4
16autoimmune disease 110.4
17niemann-pick disease10.4
18basal ganglia disease10.4
19central nervous system disease10.4
20movement disease10.4
21nervous system disease10.4
22peripheral neuropathy10.4
23prion disease10.4
24neurologic diseases10.4
25primary progressive multiple sclerosis10.3
26multiple sclerosis 310.3
27autoimmune disease 310.3
28diabetic neuropathy10.3
29epilepsy syndrome10.3
30focal epilepsy10.3
31neuropathy10.3
32seizure disorder10.3
33parkinson disease 410.2
34parkinson disease 110.2
35autoimmune disease of central nervous system10.2
36progressive relapsing multiple sclerosis10.2
37adult syndrome10.2
38exfoliation syndrome10.2
39parkinson disease 1210.2
40restless legs syndrome10.2
41peeling skin syndrome10.2
42coats disease10.2
43multiple sclerosis 410.1
44autoimmune disease 410.1
45short syndrome10.1
46restless legs syndrome 610.1
47restless legs syndrome 310.1
48restless legs syndrome 210.1
49peeling skin syndrome 210.1
50peeling skin syndrome 310.1

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, X-Linked Dominant:



Diseases related to scapuloperoneal myopathy, x-linked dominant

Symptoms for Scapuloperoneal Myopathy, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

HPO human phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:

(show all 14)
id Description Frequency HPO Source Accession
1 hyporeflexia HP:0001265
2 flexion contracture HP:0001371
3 x-linked dominant inheritance HP:0001423
4 waddling gait HP:0002515
5 skeletal muscle atrophy HP:0003202
6 elevated serum creatine phosphokinase HP:0003236
7 steppage gait HP:0003376
8 adult onset HP:0003581
9 scapular winging HP:0003691
10 myofibrillar myopathy HP:0003715
11 lower limb muscle weakness HP:0007340
12 foot dorsiflexor weakness HP:0009027
13 scapuloperoneal myopathy HP:0009054
14 arrhythmia HP:0011675

Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic Tests for Scapuloperoneal Myopathy, X-Linked Dominant

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Genetic tests related to Scapuloperoneal Myopathy, X-Linked Dominant:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, X-Linked Dominant22 FHL1
2 X-Linked Dominant Scapuloperoneal Myopathy24

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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MalaCards organs/tissues related to Scapuloperoneal Myopathy, X-Linked Dominant:

33
Skeletal muscle

Animal Models for Scapuloperoneal Myopathy, X-Linked Dominant or affiliated genes

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Publications for Scapuloperoneal Myopathy, X-Linked Dominant

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Variations for Scapuloperoneal Myopathy, X-Linked Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

67
id Symbol AA change Variation ID SNP ID
1FHL1p.Trp122SerVAR_042603

Clinvar genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser)single nucleotide variantPathogenicrs122458140GRCh37Chr X, 135289984: 135289984
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic

Expression for genes affiliated with Scapuloperoneal Myopathy, X-Linked Dominant

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Search GEO for disease gene expression data for Scapuloperoneal Myopathy, X-Linked Dominant.

Pathways for genes affiliated with Scapuloperoneal Myopathy, X-Linked Dominant

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GO Terms for genes affiliated with Scapuloperoneal Myopathy, X-Linked Dominant

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Sources for Scapuloperoneal Myopathy, X-Linked Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet