MCID: SNS009
MIFTS: 33

Sensory Neuropathy Type 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Sensory Neuropathy Type 1

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 type 1. An important gene associated with Sensory Neuropathy Type 1 is SPTLC1 (serine palmitoyltransferase, long chain base subunit 1), and among its related pathways are Inwardly rectifying K+ channels and GABA receptor activation. The compounds sch 50911 and cgp 54626 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are homeostasis/metabolism and growth/size/body.

Aliases & Classifications for Sensory Neuropathy Type 1

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44NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

sensory neuropathy type 1 44


Related Diseases for Sensory Neuropathy Type 1

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Sensory Neuropathy Type 1:



Diseases related to sensory neuropathy type 1

Symptoms for Sensory Neuropathy Type 1

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Drugs & Therapeutics for Sensory Neuropathy Type 1

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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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Genetic Tests for Sensory Neuropathy Type 1

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Anatomical Context for Sensory Neuropathy Type 1

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34MalaCards
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MalaCards organs/tissues related to Sensory Neuropathy Type 1:

34
Brain

Animal Models for Sensory Neuropathy Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sensory Neuropathy Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.4GABBR1, GABBR2, GJB1, SPTLC1
2MP:00053787.7PMP22, GJB1, GABBR2, GABBR1
3MP:00053867.6GABBR1, GABBR2, GJB1, PMP22, SPTLC1
4MP:00036317.5SPTLC1, PMP22, GJB1, GABBR2, GABBR1
5MP:00107687.4SPTLC1, PMP22, GJB1, GABBR2, GABBR1

Publications for Sensory Neuropathy Type 1

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53PubMed
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Articles related to Sensory Neuropathy Type 1:

(show all 15)
idTitleAuthorsYear
1
Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. (23011429)
2012
2
Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation. (21309765)
2011
3
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. (20097765)
2010
4
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. (20491857)
2010
5
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. (15546589)
2004
6
Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. (15337262)
2004
7
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (12417569)
2002
8
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. (11242106)
2001
9
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. (11703329)
2001
10
Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9. (10087195)
1999
11
Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. (9890296)
1999
12
Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. (8914454)
1996
13
Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report. (2291397)
1990
14
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. (2797453)
1989
15
Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. (2747736)
1989

Variations for Sensory Neuropathy Type 1

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Expression for genes affiliated with Sensory Neuropathy Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sensory Neuropathy Type 1

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Pathways for genes affiliated with Sensory Neuropathy Type 1

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51PathCards, 56Reactome, 5Cell Signaling Technology, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 13EMD Millipore, 55R&D Systems
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Pathways related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GABBR2, GABBR1
2
Show member pathways
9.3GABBR2, GABBR1
39.3GABBR1, GABBR2
4
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
9.3GABBR1, GABBR2
59.3GABBR1, GABBR2
6
Show member pathways
9.3GABBR1, GABBR2
7
Show member pathways
9.3GABBR1, GABBR2
89.1GJB1, PMP22
9
Show member pathways
8.8GABBR1, GABBR2, GJB1

Compounds for genes affiliated with Sensory Neuropathy Type 1

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62Tocris Bioscience, 46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB
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Compounds related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1sch 50911629.6GABBR2, GABBR1
2cgp 54626 hydrochloride629.6GABBR2, GABBR1
3cgp 52432629.5GABBR2, GABBR1
4cgp 55845 hydrochloride629.5GABBR2, GABBR1
5cgp 3534846 6210.5GABBR2, GABBR1
6baclofen46 1210.4GABBR2, GABBR1
7Gamma-Aminobutyric acid259.2GABBR2, GABBR1
8potassium46 25 1210.9GABBR1, GABBR2, GJB1
9forskolin46 52 1210.5GABBR1, GJB1, PMP22
10cysteine468.5GABBR1, GJB1, PMP22
11glutamate468.5GABBR1, GABBR2, GJB1
12gaba468.2GABBR1, GABBR2, GJB1, PMP22

GO Terms for genes affiliated with Sensory Neuropathy Type 1

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17Gene Ontology
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Cellular components related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:0452119.3GABBR1, GABBR2
2G-protein coupled receptor heterodimeric complexGO:0380399.0GABBR1, GABBR2

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

idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:0072149.2GABBR1, GABBR2
2negative regulation of adenylate cyclase activityGO:0071949.0GABBR1, GABBR2
3synaptic transmissionGO:0072688.5GABBR1, GABBR2, PMP22

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled GABA receptor activityGO:0049659.3GABBR1, GABBR2

Products for genes affiliated with Sensory Neuropathy Type 1

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Sources for Sensory Neuropathy Type 1

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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