SPSMA
MCID: AMY028
MIFTS: 20

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

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

Summaries for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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48OMIM, 34MalaCards
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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:48 181405

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

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM
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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 44
scapuloperoneal spinal muscular atrophy 44 21 23 48
spsma 44


Related Diseases for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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Genetic Tests for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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21GeneTests, 23GTR
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Genetic tests related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy21 23 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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65UniProtKB/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:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet