MCID: SNS009
MIFTS: 33

Sensory Neuropathy Type 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Sensory Neuropathy Type 1

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Wikipedia:65 Peripheral neuropathy (PN) is damage or disease affecting nerves, which may impair sensation, movement,... more...

MalaCards based summary: 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 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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Sensory Neuropathy Type 1, Aliases & Descriptions:

Name: Sensory Neuropathy Type 1 42


Classifications:

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


Related Diseases for Sensory Neuropathy Type 1

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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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Drug clinical trials:

Search ClinicalTrials for Sensory Neuropathy Type 1

Search NIH Clinical Center for Sensory Neuropathy Type 1

Genetic Tests for Sensory Neuropathy Type 1

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Anatomical Context for Sensory Neuropathy Type 1

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MalaCards organs/tissues related to Sensory Neuropathy Type 1:

32
Brain

Animal Models for Sensory Neuropathy Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Sensory Neuropathy Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.4GABBR2, GABBR1, SPTLC1, GJB1
2MP:00053787.7GABBR1, PMP22, GJB1, GABBR2
3MP:00053867.6SPTLC1, GABBR1, GABBR2, GJB1, PMP22
4MP:00036317.5SPTLC1, GABBR1, GABBR2, GJB1, PMP22
5MP:00107687.4GABBR1, GABBR2, GJB1, PMP22, SPTLC1

Publications for Sensory Neuropathy Type 1

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Articles related to Sensory Neuropathy Type 1:

(show all 17)
idTitleAuthorsYear
1
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. (24736309)
2014
2
Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. (25042817)
2014
3
Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. (23011429)
2012
4
Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation. (21309765)
2011
5
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. (20097765)
2010
6
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. (20491857)
2010
7
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. (15546589)
2004
8
Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. (15337262)
2004
9
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (12417569)
2002
10
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. (11242106)
2001
11
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. (11703329)
2001
12
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
13
Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. (9890296)
1999
14
Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. (8914454)
1996
15
Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report. (2291397)
1990
16
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. (2797453)
1989
17
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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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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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 signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
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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Compounds related to Sensory Neuropathy Type 1 according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1sch 50911619.6GABBR2, GABBR1
2cgp 54626 hydrochloride619.6GABBR2, GABBR1
3cgp 52432619.5GABBR2, GABBR1
4cgp 55845 hydrochloride619.5GABBR2, GABBR1
5cgp 3534844 6110.5GABBR2, GABBR1
6baclofen44 1110.4GABBR2, GABBR1
7Gamma-Aminobutyric acid249.2GABBR2, GABBR1
8potassium44 24 1110.9GABBR1, GABBR2, GJB1
9forskolin44 50 1110.5GABBR1, GJB1, PMP22
10cysteine448.5GABBR1, GJB1, PMP22
11glutamate448.5GABBR1, GABBR2, GJB1
12gaba448.2GABBR1, GABBR2, GJB1, PMP22

GO Terms for genes affiliated with Sensory Neuropathy Type 1

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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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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet