MCID: SCP002
MIFTS: 31

Scapuloperoneal Spinal Muscular Atrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

About this section

Aliases & Descriptions for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 49 11 45 22 51 24 67
Spsma 45 22 51 67
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 45 22
Neurogenic Scapuloperoneal Amyotrophy, New England Type 51
 
Amyotrophy Neurogenic Scapuloperoneal New England Type 67
Scapuloperoneal Form of Spinal Muscular Atrophy 65
Scapuloperoneal Neuronopathy 51


Classifications:



External Ids:

OMIM49 181405
Orphanet51 431255
MedGen34 C0751335
MeSH36 D009134

Summaries for Scapuloperoneal Spinal Muscular Atrophy

About this section
UniProtKB/Swiss-Prot:67 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 distal sensory impairment, autosomal dominant inheritance and torticollis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel, Subfamily V, Member 4).

Description from OMIM:49 181405

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

About this section

Graphical network of diseases related to Scapuloperoneal Spinal Muscular Atrophy:



Diseases related to scapuloperoneal spinal muscular atrophy

Symptoms for Scapuloperoneal Spinal Muscular Atrophy

About this section

Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

HPO human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

(show all 32)
id Description Frequency HPO Source Accession
1 distal sensory impairment rare (5%) HP:0002936
2 autosomal dominant inheritance HP:0000006
3 torticollis HP:0000473
4 hyporeflexia HP:0001265
5 motor delay HP:0001270
6 areflexia HP:0001284
7 hip dysplasia HP:0001385
8 talipes equinovarus HP:0001762
9 metatarsus adductus HP:0001840
10 broad-based gait HP:0002136
11 scoliosis HP:0002650
12 kyphosis HP:0002808
13 hyperlordosis HP:0003307
14 gowers sign HP:0003391
15 muscle fiber splitting HP:0003555
16 amyoplasia HP:0003634
17 scapular winging HP:0003691
18 scapuloperoneal amyotrophy HP:0003697
19 incomplete penetrance HP:0003829
20 motor polyneuropathy HP:0007178
21 progressive distal muscular atrophy HP:0008955
22 peroneal muscle atrophy HP:0009049
23 scapular muscle atrophy HP:0009060
24 progressive distal muscle weakness HP:0009063
25 diaphragmatic weakness HP:0009113
26 facial palsy HP:0010628
27 abducens palsy HP:0011349
28 peroneal muscle weakness HP:0011727
29 clinodactyly HP:0030084
30 small hand HP:0200055
31 autosomal recessive inheritance HP:0000007
32 spinal muscular atrophy HP:0007269

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

About this section

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy22 24 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

About this section

Animal Models for Scapuloperoneal Spinal Muscular Atrophy or affiliated genes

About this section

Publications for Scapuloperoneal Spinal Muscular Atrophy

About this section

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

idTitleAuthorsYear
1
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (20037587)
2010
2
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
3
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. (8872481)
1996
4
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. (7693085)
1993

Variations for Scapuloperoneal Spinal Muscular Atrophy

About this section

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

67
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg316CysVAR_063530

Clinvar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
2TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
3TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

Expression for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

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

Pathways for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

About this section

GO Terms for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

About this section

Sources for Scapuloperoneal Spinal Muscular Atrophy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet