SPM
MCID: XLN019
MIFTS: 19

X-Linked Dominant Scapuloperoneal Myopathy (SPM) malady

Summaries for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: X-Linked Dominant Scapuloperoneal Myopathy, also known as scapuloperoneal myopathy, x-linked dominant, is related to myopathy and niemann-pick disease. An important gene associated with X-Linked Dominant Scapuloperoneal Myopathy is FHL1 (four and a half LIM domains 1).

Description from OMIM:46 300695

Aliases & Classifications for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

x-linked dominant scapuloperoneal myopathy 42
scapuloperoneal myopathy, x-linked dominant 42 20 22 46 60
scapuloperoneal myopathy, fhl1-related 42
spm 42


Related Diseases for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to X-Linked Dominant Scapuloperoneal Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.4
2niemann-pick disease10.4
3liver disease10.1
4parkinson's disease10.0
5parametritis10.0
6frontal lobe epilepsy10.0
7essential tremor10.0
8cerebritis10.0
9visual epilepsy10.0
10secondary progressive multiple sclerosis10.0
11encephalitis10.0

Graphical network of diseases related to X-Linked Dominant Scapuloperoneal Myopathy:



Diseases related to x-linked dominant scapuloperoneal myopathy

Clinical Features for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
46OMIM
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Clinical features from OMIM:

300695

Clinical synopsis from OMIM:

300695

Drugs & Therapeutics for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for X-Linked Dominant Scapuloperoneal Myopathy

Drug clinical trials:

Search ClinicalTrials for X-Linked Dominant Scapuloperoneal Myopathy

Search NIH Clinical Center for X-Linked Dominant Scapuloperoneal Myopathy

Search CenterWatch for X-Linked Dominant Scapuloperoneal Myopathy

Genetic Tests for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
20GeneTests, 22GTR
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Genetic tests related to X-Linked Dominant Scapuloperoneal Myopathy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, X-Linked Dominant20 FHL1
2 X-Linked Dominant Scapuloperoneal Myopathy22

Anatomical Context for X-Linked Dominant Scapuloperoneal Myopathy

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

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Publications for X-Linked Dominant Scapuloperoneal Myopathy

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Genetic Variations for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Dominant Scapuloperoneal Myopathy:

62
id Symbol AA change Variation ID SNP ID
1FHL1p.Trp122SerVAR_042603

Expression for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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

Pathways for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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Compounds for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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

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Products for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Dominant Scapuloperoneal Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet