SPSMA
MCID: AMY028
MIFTS: 20

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

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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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

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

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


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

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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 atrophy30.8TRPV4
2spinal muscular atrophy10.5
3mitochondrial cardiomyopathy10.4
4brachyolmia type 310.0TRPV4
5parastremmatic dwarfism10.0TRPV4
6metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:



Diseases related to amyotrophy, neurogenic scapuloperoneal, new england type

Symptoms for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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47OMIM
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Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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

Genetic Tests for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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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

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

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Publications for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg316CysVAR_063530

Clinvar genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

1
id Gene Name 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 Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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2BioGPS, 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

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

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

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

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  • Antibodies
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Sources for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet