MCID: SCP009
MIFTS: 22

Scapuloperoneal Myopathy, X-Linked Dominant malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

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Aliases & Descriptions for Scapuloperoneal Myopathy, X-Linked Dominant:

Name: Scapuloperoneal Myopathy, X-Linked Dominant 46 9 42 61
X-Linked Dominant Scapuloperoneal Myopathy 42 20 22
 
Scapuloperoneal Myopathy, Fhl1-Related 42
Spm 42


Classifications:



External Ids:

OMIM46 300695

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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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: Scapuloperoneal Myopathy, X-Linked Dominant, also known as x-linked dominant scapuloperoneal myopathy, is related to pick disease and niemann-pick disease, and has symptoms including hyporeflexia, flexion contracture and x-linked dominant inheritance. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (four and a half LIM domains 1).

Description from OMIM:46 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

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Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1pick disease10.4
2niemann-pick disease10.4
3scapuloperoneal myopathy10.4
4myopathy10.4
5cerebritis10.2
6dementia10.2
7essential tremor10.0
8parametritis10.0
9frontal lobe epilepsy10.0
10secondary progressive multiple sclerosis10.0
11encephalitis10.0
12herpes simplex10.0
13charles bonnet syndrome10.0
14cerebral atrophy10.0
15tremor10.0

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



Diseases related to scapuloperoneal myopathy, x-linked dominant

Symptoms for Scapuloperoneal Myopathy, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

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

(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 Scapuloperoneal Myopathy, X-Linked Dominant

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Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Myopathy, X-Linked Dominant

Search NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic Tests for Scapuloperoneal Myopathy, X-Linked Dominant

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Genetic tests related to Scapuloperoneal Myopathy, X-Linked Dominant:

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

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

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Publications for Scapuloperoneal Myopathy, X-Linked Dominant

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Variations for Scapuloperoneal Myopathy, X-Linked Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

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

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

5
id Gene Variation 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 Scapuloperoneal Myopathy, X-Linked Dominant

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

Pathways for genes affiliated with Scapuloperoneal Myopathy, X-Linked Dominant

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Compounds for genes affiliated with Scapuloperoneal Myopathy, X-Linked Dominant

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

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Sources for Scapuloperoneal Myopathy, X-Linked Dominant

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet