MCID: SCP002
MIFTS: 30

Scapuloperoneal Spinal Muscular Atrophy malady

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

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

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Aliases & Descriptions for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 50 46 23 52 68 25 12
Spsma 46 23 52 68
Neurogenic Scapuloperoneal Amyotrophy, New England Type 23 52
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 46
 
Amyotrophy Neurogenic Scapuloperoneal New England Type 68
Scapuloperoneal Form of Spinal Muscular Atrophy 66
Scapuloperoneal Neuronopathy 52

Characteristics:

Orphanet epidemiological data:

52
scapuloperoneal spinal muscular atrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

62
scapuloperoneal spinal muscular atrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 181405
Orphanet52 ORPHA431255
ICD10 via Orphanet29 G12.1
MedGen35 C0751335
MeSH37 D009134

Summaries for Scapuloperoneal Spinal Muscular Atrophy

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UniProtKB/Swiss-Prot:68 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, torticollis and hyporeflexia. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM:50 181405

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

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Graphical network of diseases related to Scapuloperoneal Spinal Muscular Atrophy:



Diseases related to scapuloperoneal spinal muscular atrophy

Symptoms for Scapuloperoneal Spinal Muscular Atrophy

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Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

HPO human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

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

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis, facial paresis, diaphragmatic paresis

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

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Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy25 23 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

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Animal Models for Scapuloperoneal Spinal Muscular Atrophy or affiliated genes

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Publications for Scapuloperoneal Spinal Muscular Atrophy

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Articles related to Scapuloperoneal Spinal Muscular Atrophy:

idTitleAuthorsYear
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

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

68
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg316CysVAR_063530rs267607145

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

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

Pathways for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

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GO Terms for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

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Sources for Scapuloperoneal Spinal Muscular Atrophy

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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