MCID: SCP002
MIFTS: 29

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

Characteristics:

HPO:

61
Inheritance: autosomal recessive inheritance
scapuloperoneal spinal muscular atrophy:
Onset and clinical course: incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 181405
Orphanet51 431255
ICD10 via Orphanet28 G12.1
MedGen34 C0751335
MeSH36 D009134
UMLS65 C0751335

Summaries for Scapuloperoneal Spinal Muscular Atrophy

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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 myeloma and dystonia, and has symptoms including distal sensory impairment, scapular muscle atrophy and peroneal muscle atrophy. 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

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

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 Atrophy22 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
Social Skills and Executive Function Among Youth With Sickle Cell Disease: A Preliminary Investigation. (24431467)
2014
2
Craniocervical arachnoid cyst in a patient with Klippel-Feil syndrome: a unique case: case report. (23231357)
2013
3
Serial changes in urinary cadmium concentrations and degree of renal tubular injury after soil replacement in cadmium-polluted rice paddies. (18065169)
2008
4
Cysteine 144 is a key residue in the copper reduction by the beta- amyloid precursor protein. (10461923)
1999

Variations for Scapuloperoneal Spinal Muscular Atrophy

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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

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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
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