SPM
MCID: XLN019
MIFTS: 22

X-Linked Dominant Scapuloperoneal Myopathy (SPM) malady

Genetic diseases, Rare diseases categories
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Summaries for X-Linked Dominant Scapuloperoneal Myopathy

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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 myopathy. 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

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

x-linked dominant scapuloperoneal myopathy 43
scapuloperoneal myopathy, x-linked dominant 43 20 22 47 62
scapuloperoneal myopathy, fhl1-related 43
spm 43


Related Diseases for X-Linked Dominant Scapuloperoneal Myopathy

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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
1niemann-pick disease10.4
2myopathy10.4
3parametritis10.0
4frontal lobe epilepsy10.0
5essential tremor10.0
6cerebritis10.0
7secondary progressive multiple sclerosis10.0
8parkinson's disease10.0
9encephalitis10.0
10charles bonnet syndrome10.0
11tremor10.0

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



Diseases related to x-linked dominant scapuloperoneal myopathy

Symptoms for X-Linked Dominant Scapuloperoneal Myopathy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

Drugs & Therapeutics for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for X-Linked Dominant Scapuloperoneal Myopathy

Search NIH Clinical Center for X-Linked Dominant Scapuloperoneal Myopathy

Genetic Tests for X-Linked Dominant Scapuloperoneal Myopathy

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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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52PubMed
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Articles related to X-Linked Dominant Scapuloperoneal Myopathy:

idTitleAuthorsYear
1
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (18179901)
2008

Variations for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for X-Linked Dominant Scapuloperoneal Myopathy:

64
id Symbol AA change Variation ID SNP ID
1FHL1p.Trp122SerVAR_042603

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

1
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser)single nucleotide variantPathogenicrs122458140GRCh37Chr X, 135289984: 135289984

Expression for genes affiliated with X-Linked Dominant Scapuloperoneal Myopathy

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2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet