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

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

Name: Scapuloperoneal Myopathy, X-Linked Dominant 54 50 24 66 13 69
Spm 50 24 66
X-Linked Dominant Scapuloperoneal Myopathy 50 29
X-Linked Scapuloperoneal Muscular Dystrophy 56
X-Linked Emery-Dreifuss Muscular Dystrophy 69
Scapuloperoneal Myopathy, Fhl1-Related 50
Scapuloperoneal Myopathy Fhl1-Related 66
X-Linked Scapuloperoneal Syndrome 56
X-Linked Spmd 56

Characteristics:

Orphanet epidemiological data:

56
x-linked scapuloperoneal muscular dystrophy
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

HPO:

32
scapuloperoneal myopathy, x-linked dominant:
Onset and clinical course adult onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 300695
Orphanet 56 ORPHA431272
ICD10 via Orphanet 34 G71.0
MedGen 40 C2678061
MeSH 42 D020389

Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

NIH Rare Diseases : 50 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, lower limb muscle weakness and flexion contracture. 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 phenotype is muscle.

UniProtKB/Swiss-Prot : 66 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: 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
id Related Disease Score Top Affiliating Genes
1 secondary progressive multiple sclerosis 11.2
2 emd-related emery-dreifuss muscular dystrophy, x-linked 11.1
3 pick disease 10.1
4 niemann-pick disease 10.1
5 myopathy 10.1
6 scapuloperoneal myopathy 10.1
7 exocrine pancreatic insufficiency 9.9 EMD FHL1
8 reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset 9.8 EMD FHL1
9 spindle cell sarcoma 9.8 EMD FHL1
10 dementia 9.8
11 cerebritis 9.8
12 dowling-degos disease 9.8 EMD FHL1
13 parametrium malignant neoplasm 9.7 EMD FHL1
14 epilepsy 9.7
15 herpes simplex 9.7
16 encephalitis 9.7
17 charles bonnet syndrome 9.7
18 cerebral atrophy 9.7
19 tremor 9.7
20 essential tremor 9.7
21 parametritis 9.7

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

Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

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

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 lower limb muscle weakness 32 HP:0007340
3 flexion contracture 32 HP:0001371
4 elevated serum creatine phosphokinase 32 HP:0003236
5 arrhythmia 32 HP:0011675
6 skeletal muscle atrophy 32 HP:0003202
7 scapular winging 32 HP:0003691
8 hyporeflexia 32 HP:0001265
9 steppage gait 32 HP:0003376
10 myofibrillar myopathy 32 HP:0003715
11 foot dorsiflexor weakness 32 HP:0009027
12 scapuloperoneal myopathy 32 HP:0009054

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 EMD FHL1

Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic Tests for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic tests related to Scapuloperoneal Myopathy, X-Linked Dominant:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, X-Linked Dominant 29 24 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

39
Skeletal Muscle

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

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

66
id Symbol AA change Variation ID SNP ID
1 FHL1 p.Trp122Ser VAR_042603 rs122458140
2 FHL1 p.His154Pro VAR_076566

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser) single nucleotide variant Pathogenic rs122458140 GRCh37 Chromosome X, 135289984: 135289984
2 FHL1 FHL1, 3-BP INS, 381ATC insertion Pathogenic

Expression for Scapuloperoneal Myopathy, X-Linked Dominant

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

Pathways for Scapuloperoneal Myopathy, X-Linked Dominant

GO Terms for Scapuloperoneal Myopathy, X-Linked Dominant

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

id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 EMD FHL1

Sources for Scapuloperoneal Myopathy, X-Linked Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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