MCID: SCP002
MIFTS: 27

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 51 47 24 53 69 26 12
Spsma 47 24 53 69
Neurogenic Scapuloperoneal Amyotrophy, New England Type 24 53
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 47
 
Amyotrophy Neurogenic Scapuloperoneal New England Type 69
Scapuloperoneal Form of Spinal Muscular Atrophy 67
Scapuloperoneal Neuronopathy 53

Characteristics:

Orphanet epidemiological data:

53
scapuloperoneal spinal muscular atrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

63
scapuloperoneal spinal muscular atrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 181405
Orphanet53 ORPHA431255
ICD10 via Orphanet30 G12.1
MedGen36 C0751335
MeSH38 D009134

Summaries for Scapuloperoneal Spinal Muscular Atrophy

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 29)
id Description HPO Frequency HPO Source Accession
1 distal sensory impairment63 rare (5%) HP:0002936
2 torticollis63 HP:0000473
3 hyporeflexia63 HP:0001265
4 motor delay63 HP:0001270
5 areflexia63 HP:0001284
6 hip dysplasia63 HP:0001385
7 talipes equinovarus63 HP:0001762
8 metatarsus adductus63 HP:0001840
9 broad-based gait63 HP:0002136
10 scoliosis63 HP:0002650
11 kyphosis63 HP:0002808
12 hyperlordosis63 HP:0003307
13 gowers sign63 HP:0003391
14 muscle fiber splitting63 HP:0003555
15 amyoplasia63 HP:0003634
16 scapular winging63 HP:0003691
17 scapuloperoneal amyotrophy63 HP:0003697
18 motor polyneuropathy63 HP:0007178
19 progressive distal muscular atrophy63 HP:0008955
20 peroneal muscle atrophy63 HP:0009049
21 scapular muscle atrophy63 HP:0009060
22 progressive distal muscle weakness63 HP:0009063
23 diaphragmatic weakness63 HP:0009113
24 facial palsy63 HP:0010628
25 abducens palsy63 HP:0011349
26 peroneal muscle weakness63 HP:0011727
27 clinodactyly63 HP:0030084
28 small hand63 HP:0200055
29 spinal muscular atrophy63 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 Atrophy26 24 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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet