MCID: SCP009
MIFTS: 22

Scapuloperoneal Myopathy, X-Linked Dominant malady

Genetic diseases, Rare diseases categories

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

About this section


NIH Rare Diseases:41 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:45 300695

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

About this section

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

Name: Scapuloperoneal Myopathy, X-Linked Dominant 45 10 41 60
X-Linked Dominant Scapuloperoneal Myopathy 41 20 22
 
Scapuloperoneal Myopathy, Fhl1-Related 41
Spm 41


Classifications:

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


External Ids:

OMIM45 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

About this section

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

About this section

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

62
id Symbol AA change Variation ID SNP ID
1FHL1p.Trp122SerVAR_042603

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

6
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

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

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Scapuloperoneal Myopathy, X-Linked Dominant

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet