MCID: SCP009
MIFTS: 25

Scapuloperoneal Myopathy, X-Linked Dominant malady

Categories: Genetic diseases, Rare diseases

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 49 11 45 22 67 65
Spm 45 22 67
X-Linked Dominant Scapuloperoneal Myopathy 45 24
 
Scapuloperoneal Myopathy, Fhl1-Related 45
Scapuloperoneal Myopathy Fhl1-Related 67

Characteristics:

HPO:

61
scapuloperoneal myopathy, x-linked dominant:
Onset and clinical course: adult onset
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300695
MedGen34 C2678061
MeSH36 D020389
UMLS65 C2678061

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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NIH Rare Diseases:45 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 spm, is related to secondary progressive multiple sclerosis and pick disease, and has symptoms including arrhythmia, scapuloperoneal myopathy and foot dorsiflexor weakness. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, prostate and thyroid.

UniProtKB/Swiss-Prot:67 Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.

Description from OMIM:49 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 14)
idRelated DiseaseScoreTop Affiliating Genes
1secondary progressive multiple sclerosis11.3
2pick disease10.2
3niemann-pick disease10.2
4scapuloperoneal myopathy10.2
5myopathy10.2
6dementia10.0
7cerebritis10.0
8essential tremor9.8
9parametritis9.8
10frontal lobe epilepsy9.8
11encephalitis9.8
12charles bonnet syndrome9.8
13cerebral atrophy9.8
14tremor9.8

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 12)
id Description Frequency HPO Source Accession
1 arrhythmia HP:0011675
2 scapuloperoneal myopathy HP:0009054
3 foot dorsiflexor weakness HP:0009027
4 lower limb muscle weakness HP:0007340
5 myofibrillar myopathy HP:0003715
6 scapular winging HP:0003691
7 steppage gait HP:0003376
8 elevated serum creatine phosphokinase HP:0003236
9 skeletal muscle atrophy HP:0003202
10 waddling gait HP:0002515
11 flexion contracture HP:0001371
12 hyporeflexia HP:0001265

UMLS symptoms related to Scapuloperoneal Myopathy, X-Linked Dominant:


weakness of lower limb, gait, drop foot, waddling gait

Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

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Interventional clinical trials:

Search ClinicalTrials, 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 Dominant22 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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MalaCards organs/tissues related to Scapuloperoneal Myopathy, X-Linked Dominant:

33
Skeletal muscle, Prostate, Thyroid

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:

67
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet