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

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Aliases & Descriptions for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 52 48 24 54 70 27 12
Spsma 48 24 54 70
Neurogenic Scapuloperoneal Amyotrophy, New England Type 24 54
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 48
 
Amyotrophy Neurogenic Scapuloperoneal New England Type 70
Scapuloperoneal Form of Spinal Muscular Atrophy 68
Scapuloperoneal Neuronopathy 54

Characteristics:

Orphanet epidemiological data:

54
scapuloperoneal spinal muscular atrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
scapuloperoneal spinal muscular atrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 181405
Orphanet54 ORPHA431255
ICD10 via Orphanet31 G12.1
MedGen37 C0751335
MeSH39 D009134

Summaries for Scapuloperoneal Spinal Muscular Atrophy

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UniProtKB/Swiss-Prot:70 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, torticollis and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM:52 181405

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

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

idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy10.3
2muscular atrophy10.3
3cardiomyopathy10.0
4mitochondrial cardiomyopathy10.0

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

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Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

 64 (show all 29)
id Description HPO Frequency HPO Source Accession
1 torticollis64 HP:0000473
2 hyporeflexia64 HP:0001265
3 motor delay64 HP:0001270
4 areflexia64 HP:0001284
5 hip dysplasia64 HP:0001385
6 talipes equinovarus64 HP:0001762
7 metatarsus adductus64 HP:0001840
8 broad-based gait64 HP:0002136
9 scoliosis64 HP:0002650
10 kyphosis64 HP:0002808
11 distal sensory impairment64 HP:0002936
12 hyperlordosis64 HP:0003307
13 gowers sign64 HP:0003391
14 muscle fiber splitting64 HP:0003555
15 amyoplasia64 HP:0003634
16 scapular winging64 HP:0003691
17 scapuloperoneal amyotrophy64 HP:0003697
18 motor polyneuropathy64 HP:0007178
19 progressive distal muscular atrophy64 HP:0008955
20 peroneal muscle atrophy64 HP:0009049
21 scapular muscle atrophy64 HP:0009060
22 progressive distal muscle weakness64 HP:0009063
23 diaphragmatic weakness64 HP:0009113
24 facial palsy64 HP:0010628
25 abducens palsy64 HP:0011349
26 peroneal muscle weakness64 HP:0011727
27 clinodactyly64 HP:0030084
28 small hand64 HP:0200055
29 spinal muscular atrophy64 HP:0007269

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis, facial 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 Atrophy27 24 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

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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:

70
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)SNVPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
2TRPV4NM_ 021625.4(TRPV4): c.946C> T (p.Arg316Cys)SNVPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
3TRPV4NM_ 021625.4(TRPV4): c.805C> T (p.Arg269Cys)SNVPathogenicrs267607146GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet