MCID: SNS009
MIFTS: 23

Sensory Neuropathy Type 1 malady

Neuronal diseases category

Summaries for Sensory Neuropathy Type 1

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63Wikipedia, 32MalaCards
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Wikipedia:63 Peripheral neuropathy (PN) is damage or disease affecting nerves, which may impair sensation, movement,... more...

MalaCards: Sensory Neuropathy Type 1 is related to neuropathy and hereditary sensory neuropathy. An important gene associated with Sensory Neuropathy Type 1 is SPTLC1 (serine palmitoyltransferase, long chain base subunit 1), and among its related pathways are Neural Crest Differentiation and Class C/3 (Metabotropic glutamate/pheromone receptors). The compounds cgp 35348 and sch 50911 have been mentioned in the context of this disorder. Related mouse phenotypes are growth/size and nervous system.

Aliases & Classifications for Sensory Neuropathy Type 1

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42NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

sensory neuropathy type 1 42


Related Diseases for Sensory Neuropathy Type 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sensory Neuropathy Type 1:



Diseases related to sensory neuropathy type 1

Clinical Features for Sensory Neuropathy Type 1

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Drugs & Therapeutics for Sensory Neuropathy Type 1

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

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Drug clinical trials:

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Genetic Tests for Sensory Neuropathy Type 1

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Anatomical Context for Sensory Neuropathy Type 1

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Animal Models for Sensory Neuropathy Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sensory Neuropathy Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7GJB1, DNMT1, GABBR2, GABBR1, PMP22
2MP:00036317.3PMP22, GABBR1, GABBR2, DNMT1, GJB1, SPTLC1
3MP:00107687.1PMP22, GABBR1, GABBR2, DNMT1, GJB1, SPTLC1
4MP:00053866.7SPTLC1, PMP22, GABBR1, GABBR2, ATL1, DNMT1

Publications for Sensory Neuropathy Type 1

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Genetic Variations for Sensory Neuropathy Type 1

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Expression for genes affiliated with Sensory Neuropathy Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sensory Neuropathy Type 1

Search GEO for disease gene expression data for Sensory Neuropathy Type 1.

Pathways for genes affiliated with Sensory Neuropathy Type 1

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Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 52R&D Systems
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Compounds for genes affiliated with Sensory Neuropathy Type 1

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1cgp 3534859 4410.7GABBR1, GABBR2
2sch 50911599.7GABBR1, GABBR2
3cgp 54626 hydrochloride599.7GABBR1, GABBR2
4cgp 52432599.7GABBR1, GABBR2
5cgp 55845 hydrochloride599.6GABBR1, GABBR2
6baclofen44 1110.6GABBR1, GABBR2
7bamhi449.3DNMT1, PMP22
8valproate449.0DNMT1, GABBR1
9potassium44 11 2411.0GABBR1, GABBR2, GJB1
10gaba448.8GJB1, GABBR2, GABBR1, PMP22
11forskolin44 49 1110.8GJB1, GABBR1, PMP22
12progesterone44 59 28 11 2412.8GJB1, DNMT1, PMP22
13cysteine448.3GJB1, DNMT1, GABBR1, PMP22
14glutamate448.3GABBR1, GABBR2, DNMT1, GJB1

GO Terms for genes affiliated with Sensory Neuropathy Type 1

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16Gene Ontology
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Cellular components related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled receptor heterodimeric complexGO:0380399.4GABBR2, GABBR1

Biological processes related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:0072149.3GABBR2, GABBR1
2negative regulation of adenylate cyclase activityGO:0071949.1GABBR2, GABBR1
3synaptic transmissionGO:0072689.0GABBR2, GABBR1, PMP22

Molecular functions related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled GABA receptor activityGO:0049659.4GABBR2, GABBR1

Products for genes affiliated with Sensory Neuropathy Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sensory Neuropathy Type 1

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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