MCID: SCP002
MIFTS: 24

Scapuloperoneal Spinal Muscular Atrophy malady

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

Summaries for Scapuloperoneal Spinal Muscular Atrophy

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MalaCards based summary: Scapuloperoneal Spinal Muscular Atrophy, also known as amyotrophy, neurogenic scapuloperoneal, new england type, is related to muscular atrophy and spinal 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:45 181405

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

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Scapuloperoneal Spinal Muscular Atrophy, Aliases & Descriptions:

Name: Scapuloperoneal Spinal Muscular Atrophy 45 10 41 20 22
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 41
 
Scapuloperoneal Form of Spinal Muscular Atrophy 60
Spsma 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


External Ids:

OMIM45 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
1muscular atrophy30.9TRPV4
2spinal muscular atrophy10.5
3mitochondrial cardiomyopathy10.4
4brachyolmia type 310.1TRPV4
5parastremmatic dwarfism10.1TRPV4
6metatropic dysplasia10.0TRPV4

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 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 generalized 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

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Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Spinal Muscular Atrophy

Search 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 Atrophy20 22 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
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (20037587)
2010
2
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:

62
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg316CysVAR_063530

Clinvar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6
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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Compounds 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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Products for genes affiliated with Scapuloperoneal Spinal Muscular Atrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Scapuloperoneal Spinal Muscular Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet