MCID: SCP009
MIFTS: 30

Scapuloperoneal Myopathy, X-Linked Dominant 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 50 46 23 68 12 66
Spm 46 23 68
X-Linked Dominant Scapuloperoneal Myopathy 46 25
X-Linked Scapuloperoneal Muscular Dystrophy 52
X-Linked Emery-Dreifuss Muscular Dystrophy 66
 
Scapuloperoneal Myopathy, Fhl1-Related 46
Scapuloperoneal Myopathy Fhl1-Related 68
X-Linked Scapuloperoneal Syndrome 52
X-Linked Spmd 52

Characteristics:

Orphanet epidemiological data:

52
x-linked scapuloperoneal muscular dystrophy:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

62
scapuloperoneal myopathy, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 300695
Orphanet52 ORPHA431272
ICD10 via Orphanet29 G71.0
MedGen35 C2678061
MeSH37 D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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NIH Rare Diseases:46 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:68 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:50 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 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 hyporeflexia HP:0001265
2 flexion contracture HP:0001371
3 waddling gait HP:0002515
4 skeletal muscle atrophy HP:0003202
5 elevated serum creatine phosphokinase HP:0003236
6 steppage gait HP:0003376
7 scapular winging HP:0003691
8 myofibrillar myopathy HP:0003715
9 lower limb muscle weakness HP:0007340
10 foot dorsiflexor weakness HP:0009027
11 scapuloperoneal myopathy HP:0009054
12 arrhythmia HP:0011675

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


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

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 Dominant25 23 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

34
Skeletal muscle

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

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MGI Mouse Phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EMD, FHL1

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:

68
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 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1EMDEMD, 2-BP DEL, NT564deletionPathogenic
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenic
4EMDEMD, 2-BP INS, NT198insertionPathogenic
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenic
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenic
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)single nucleotide variantPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)single nucleotide variantPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenic
11FHL1NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser)single nucleotide variantPathogenicrs122458140GRCh37Chr X, 135289984: 135289984
12FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic
13EMDNM_000117.2(EMD): c.266-2A> Gsingle nucleotide variantPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
14EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet