SPSMA
MCID: SCP002
MIFTS: 27

Scapuloperoneal Spinal Muscular Atrophy (SPSMA) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

Aliases & Descriptions for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 54 50 24 56 66 29 13
Spsma 50 24 56 66
Neurogenic Scapuloperoneal Amyotrophy, New England Type 24 56
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 50
Amyotrophy Neurogenic Scapuloperoneal New England Type 66
Scapuloperoneal Form of Spinal Muscular Atrophy 69
Scapuloperoneal Neuronopathy 56

Characteristics:

Orphanet epidemiological data:

56
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

32
scapuloperoneal spinal muscular atrophy:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 181405
Orphanet 56 ORPHA431255
ICD10 via Orphanet 34 G12.1
MedGen 40 C0751335
MeSH 42 D009134

Summaries for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot : 66 Scapuloperoneal spinal muscular atrophy: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.

MalaCards based summary : Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including torticollis, clinodactyly and scoliosis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM: 181405

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

Diseases related to Scapuloperoneal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.3
2 muscular atrophy 10.3
3 cardiomyopathy 10.0
4 mitochondrial cardiomyopathy 10.0

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 clinodactyly 32 HP:0030084
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 hyperlordosis 32 HP:0003307
6 facial palsy 32 HP:0010628
7 hip dysplasia 32 HP:0001385
8 metatarsus adductus 32 HP:0001840
9 scapular winging 32 HP:0003691
10 small hand 32 HP:0200055
11 talipes equinovarus 32 HP:0001762
12 areflexia 32 HP:0001284
13 hyporeflexia 32 HP:0001265
14 motor delay 32 HP:0001270
15 diaphragmatic weakness 32 HP:0009113
16 distal sensory impairment 32 HP:0002936
17 progressive distal muscular atrophy 32 HP:0008955
18 broad-based gait 32 HP:0002136
19 abducens palsy 32 HP:0011349
20 motor polyneuropathy 32 HP:0007178
21 gowers sign 32 HP:0003391
22 muscle fiber splitting 32 HP:0003555
23 spinal muscular atrophy 32 HP:0007269
24 peroneal muscle atrophy 32 HP:0009049
25 peroneal muscle weakness 32 HP:0011727
26 amyoplasia 32 HP:0003634
27 scapuloperoneal amyotrophy 32 HP:0003697
28 scapular muscle atrophy 32 HP:0009060
29 progressive distal muscle weakness 32 HP:0009063

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis, facial paresis

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 29 24 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

id Title Authors Year
1
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. ( 26948711 )
2016
2
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
3
Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. ( 9187660 )
1997
4
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. ( 8872481 )
1996
5
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. ( 7693085 )
1993

Variations for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg316Cys VAR_063530 rs267607145

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
3 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471

Expression for Scapuloperoneal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Scapuloperoneal Spinal Muscular Atrophy.

Pathways for Scapuloperoneal Spinal Muscular Atrophy

GO Terms for Scapuloperoneal Spinal Muscular Atrophy

Sources for Scapuloperoneal Spinal Muscular Atrophy

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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