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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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 based summary: X-Linked Dominant Scapuloperoneal Myopathy, also known as scapuloperoneal myopathy, x-linked dominant, is related to myopathy and niemann-pick disease, and has symptoms including 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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X-Linked Dominant Scapuloperoneal Myopathy, Aliases & Descriptions:

Name: X-Linked Dominant Scapuloperoneal Myopathy 42
Scapuloperoneal Myopathy, X-Linked Dominant 42 20 22 46 62
 
Scapuloperoneal Myopathy, Fhl1-Related 42
Spm 42


Classifications:

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


Related Diseases for X-Linked Dominant Scapuloperoneal Myopathy

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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
1myopathy10.4
2niemann-pick disease10.4
3parkinson's disease10.0
4parametritis10.0
5essential tremor10.0
6secondary progressive multiple sclerosis10.0
7frontal lobe epilepsy10.0
8cerebritis10.0
9dementia10.0
10encephalitis10.0
11herpes simplex10.0
12charles bonnet syndrome10.0
13tremor10.0

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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Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

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

(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 amyotrophy 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 proximal muscle weakness HP:0003701
11 myofibrillar myopathy HP:0003715
12 lower limb muscle weakness HP:0007340
13 foot dorsiflexor weakness HP:0009027
14 arrhythmia HP:0011675

Drugs & Therapeutics for X-Linked Dominant Scapuloperoneal Myopathy

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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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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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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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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:

6
id Gene Name 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 X-Linked Dominant Scapuloperoneal Myopathy

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet