SPM
MCID: SCP009
MIFTS: 29

Scapuloperoneal Myopathy, X-Linked Dominant (SPM) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle 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 52 48 24 70 12 68
Spm 48 24 70
X-Linked Dominant Scapuloperoneal Myopathy 48 27
X-Linked Scapuloperoneal Muscular Dystrophy 54
X-Linked Emery-Dreifuss Muscular Dystrophy 68
 
Scapuloperoneal Myopathy, Fhl1-Related 48
Scapuloperoneal Myopathy Fhl1-Related 70
X-Linked Scapuloperoneal Syndrome 54
X-Linked Spmd 54

Characteristics:

Orphanet epidemiological data:

54
x-linked scapuloperoneal muscular dystrophy:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

64
scapuloperoneal myopathy, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 300695
Orphanet54 ORPHA431272
ICD10 via Orphanet31 G71.0
MedGen37 C2678061
MeSH39 D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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NIH Rare Diseases:48 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 emd-related emery-dreifuss muscular dystrophy, x-linked, and has symptoms including waddling gait, waddling gait and waddling gait. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

UniProtKB/Swiss-Prot:70 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:52 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

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Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, X-Linked Dominant:



Diseases related to scapuloperoneal myopathy, x-linked dominant

Symptoms & Phenotypes for Scapuloperoneal Myopathy, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

Human phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 flexion contracture64 HP:0001371
3 waddling gait64 HP:0002515
4 skeletal muscle atrophy64 HP:0003202
5 elevated serum creatine phosphokinase64 HP:0003236
6 steppage gait64 HP:0003376
7 scapular winging64 HP:0003691
8 myofibrillar myopathy64 HP:0003715
9 lower limb muscle weakness64 HP:0007340
10 foot dorsiflexor weakness64 HP:0009027
11 scapuloperoneal myopathy64 HP:0009054
12 arrhythmia64 HP:0011675

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


waddling gait, lower limb muscle weakness

MGI Mouse Phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EMD, FHL1

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 Dominant27 24 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

36
Skeletal muscle

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:

70
id Symbol AA change Variation ID SNP ID
1FHL1p.Trp122SerVAR_042603rs122458140
2FHL1p.His154ProVAR_076566

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)SNVPathogenicrs122458140GRCh37Chr 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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Biological processes related to Scapuloperoneal Myopathy, X-Linked Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.1EMD, FHL1

Sources for Scapuloperoneal Myopathy, X-Linked Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet