MCID: SNS009
MIFTS: 20

Sensory Neuropathy Type 1 malady

Neuronal category

Summaries for Sensory Neuropathy Type 1

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64Wikipedia, 33MalaCards
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Wikipedia:64 Peripheral neuropathy (PN) is damage or disease affecting nerves, which may affect sensation, movement,... more...

MalaCards: Sensory Neuropathy Type 1 is related to neuropathy hereditary sensory and autonomic type 1 and motor sensory neuropathy type 1 aplasia cutis congenita. 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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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

sensory neuropathy type 1 43


Related Diseases for Sensory Neuropathy Type 1

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



Diseases related to sensory neuropathy type 1

Clinical Features for Sensory Neuropathy Type 1

Drugs & Therapeutics for Sensory Neuropathy Type 1

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5CenterWatch, 42NIH 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

Anatomical Context for Sensory Neuropathy Type 1

Animal Models for Sensory Neuropathy Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Sensory Neuropathy Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7PMP22, GABBR1, GABBR2, DNMT1, GJB1
2MP:00036317.3SPTLC1, GJB1, DNMT1, GABBR2, GABBR1, PMP22
3MP:00107687.1PMP22, SPTLC1, GJB1, DNMT1, GABBR2, GABBR1
4MP:00053866.7GJB1, DNMT1, ATL1, GABBR2, GABBR1, PMP22

Publications for Sensory Neuropathy Type 1

Genetic Variations for Sensory Neuropathy Type 1

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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 53R&D Systems
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Compounds for genes affiliated with Sensory Neuropathy Type 1

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR
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Compounds related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1cgp 3534860 4510.7GABBR1, GABBR2
2sch 50911609.7GABBR1, GABBR2
3cgp 54626 hydrochloride609.7GABBR1, GABBR2
4cgp 52432609.7GABBR1, GABBR2
5cgp 55845 hydrochloride609.6GABBR1, GABBR2
6baclofen45 1110.6GABBR1, GABBR2
7bamhi459.3DNMT1, PMP22
8valproate459.0DNMT1, GABBR1
9potassium45 11 2411.0GABBR1, GABBR2, GJB1
10gaba458.8GJB1, GABBR2, GABBR1, PMP22
11forskolin45 50 1110.8GJB1, GABBR1, PMP22
12progesterone45 60 29 11 2412.8GJB1, DNMT1, PMP22
13cysteine458.3GJB1, DNMT1, GABBR1, PMP22
14glutamate458.3GABBR1, GABBR2, DNMT1, GJB1

GO Terms for genes affiliated with Sensory Neuropathy Type 1

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sensory Neuropathy Type 1

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