SPSMA
MCID: AMY028
MIFTS: 17

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

Neuronal diseases, Muscle diseases categories

Summaries for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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46OMIM, 32MalaCards
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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:46 181405

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM
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Classifications:

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


Aliases & Descriptions:

amyotrophy, neurogenic scapuloperoneal, new england type 42
scapuloperoneal spinal muscular atrophy 42 20 22 46
spsma 42


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 atrophy30.7TRPV4
2spinal muscular atrophy10.5

Clinical Features for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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46OMIM
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Clinical features from OMIM:

181405

Clinical synopsis from OMIM:

181405

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

Search CenterWatch 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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Genetic Variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

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

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

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

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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet