SPSMA
MCID: AMY028
MIFTS: 14

Amyotrophy, Neurogenic Scapuloperoneal, New England Type (SPSMA) malady

Neuronal, Muscle categories

Summaries for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
47OMIM, 33MalaCards
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MalaCards: Amyotrophy, Neurogenic Scapuloperoneal, New England Type, also known as scapuloperoneal spinal muscular atrophy, is related to muscular atrophy and spinal muscular atrophy. An important gene associated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 181405

Aliases & Classifications for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Aliases & Descriptions:

amyotrophy, neurogenic scapuloperoneal, new england type 43
scapuloperoneal spinal muscular atrophy 43 20 22 47
spsma 43


Related Diseases for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy30.7TRPV4
2spinal muscular atrophy10.5
3mitochondrial cardiomyopathy10.4

Clinical Features for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
47OMIM
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Clinical features from OMIM:

181405

Clinical synopsis from OMIM:

181405

Drugs & Therapeutics for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Drug clinical trials:

Search ClinicalTrials for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Search NIH Clinical Center for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Search CenterWatch for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Genetic Tests for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
20GeneTests, 22GTR
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Genetic tests related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy20 22 TRPV4

Anatomical Context for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Animal Models for Amyotrophy, Neurogenic Scapuloperoneal, New England Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Genetic Variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

63
id Symbol AA change Variation SNP ID
1TRPV4p.Arg316CysVAR_063530

Expression for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Search GEO for disease gene expression data for Amyotrophy, Neurogenic Scapuloperoneal, New England Type.

Pathways for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Compounds for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

GO Terms for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Products for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet