SPM
MCID: XLN019
MIFTS: 22

X-Linked Dominant Scapuloperoneal Myopathy (SPM) malady

Genetic diseases, Rare diseases categories

Summaries for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 300695

Aliases & Classifications for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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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 44
scapuloperoneal myopathy, x-linked dominant 44 21 23 48 63
scapuloperoneal myopathy, fhl1-related 44
spm 44


Related Diseases for X-Linked Dominant Scapuloperoneal Myopathy

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to X-Linked Dominant Scapuloperoneal Myopathy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, X-Linked Dominant21 FHL1
2 X-Linked Dominant Scapuloperoneal Myopathy23

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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Sources:
53PubMed
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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:
65UniProtKB/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:

65
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet