SPM
MCID: XLN019
MIFTS: 17

X-Linked Dominant Scapuloperoneal Myopathy (SPM) malady

Summaries for X-Linked Dominant Scapuloperoneal Myopathy

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 niemann-pick disease 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:47 300695

Aliases & Classifications for X-Linked Dominant Scapuloperoneal Myopathy

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

x-linked dominant scapuloperoneal myopathy 43
scapuloperoneal myopathy, x-linked dominant 43 20 22 47 61
scapuloperoneal myopathy, fhl1-related 43
spm 43


Related Diseases for X-Linked Dominant Scapuloperoneal Myopathy

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 13)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease10.4
2niemann–pick disease10.4
3niemann-pick disease type d10.2
4pick's disease10.1
5parkinson's disease10.0
6frontal lobe epilepsy10.0
7essential tremor10.0
8visual epilepsy10.0
9secondary progressive multiple sclerosis10.0
10char syndrome10.0
11charles bonnet syndrome10.0
12tremor10.0
13bickerstaff brainstem encephalitis10.0

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

Sources:
47OMIM
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Clinical features from OMIM:

300695

Clinical synopsis from OMIM:

300695

Drugs & Therapeutics for X-Linked Dominant Scapuloperoneal Myopathy

Sources:
5CenterWatch, 42NIH 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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Dominant Scapuloperoneal Myopathy

Genetic Variations for X-Linked Dominant Scapuloperoneal Myopathy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Dominant Scapuloperoneal Myopathy:

63
id Symbol AA change Variation SNP ID
1FHL1p.Trp122SerVAR_042603

Expression for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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

Compounds for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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

Products for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Dominant Scapuloperoneal Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet