MCID: SCP009
MIFTS: 29

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 51 47 24 69 12 67
Spm 47 24 69
X-Linked Dominant Scapuloperoneal Myopathy 47 26
X-Linked Scapuloperoneal Muscular Dystrophy 53
X-Linked Emery-Dreifuss Muscular Dystrophy 67
 
Scapuloperoneal Myopathy, Fhl1-Related 47
Scapuloperoneal Myopathy Fhl1-Related 69
X-Linked Scapuloperoneal Syndrome 53
X-Linked Spmd 53

Characteristics:

Orphanet epidemiological data:

53
x-linked scapuloperoneal muscular dystrophy:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

63
scapuloperoneal myopathy, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM51 300695
Orphanet53 ORPHA431272
ICD10 via Orphanet30 G71.0
MedGen36 C2678061
MeSH38 D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

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NIH Rare Diseases:47 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 hyporeflexia, flexion contracture 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:69 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:51 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

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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

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

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia63 HP:0001265
2 flexion contracture63 HP:0001371
3 waddling gait63 HP:0002515
4 skeletal muscle atrophy63 HP:0003202
5 elevated serum creatine phosphokinase63 HP:0003236
6 steppage gait63 HP:0003376
7 scapular winging63 HP:0003691
8 myofibrillar myopathy63 HP:0003715
9 lower limb muscle weakness63 HP:0007340
10 foot dorsiflexor weakness63 HP:0009027
11 scapuloperoneal myopathy63 HP:0009054
12 arrhythmia63 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 Dominant26 24 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

35
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:

40
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:

69
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, NT564deletionPathogenicChr na, -1: -1
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)SNVPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenicChr na, -1: -1
4EMDEMD, 2-BP INS, NT198insertionPathogenicChr na, -1: -1
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenicChr na, -1: -1
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)SNVPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenicChr na, -1: -1
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)SNVPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)SNVPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenicChr na, -1: -1
11FHL1NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser)SNVPathogenicrs122458140GRCh37Chr X, 135289984: 135289984
12FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenicChr na, -1: -1
13EMDNM_000117.2(EMD): c.266-2A> GSNVPathogenicrs727503036GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet