MCID: SNS009
MIFTS: 29

Sensory Neuropathy Type 1

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sensory Neuropathy Type 1

MalaCards integrated aliases for Sensory Neuropathy Type 1:

Name: Sensory Neuropathy Type 1 54

Classifications:



Summaries for Sensory Neuropathy Type 1

MalaCards based summary : Sensory Neuropathy Type 1 is related to neuropathy and sensory peripheral neuropathy. An important gene associated with Sensory Neuropathy Type 1 is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are GABAergic synapse and cAMP signaling pathway. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Sensory Neuropathy Type 1

Graphical network of the top 20 diseases related to Sensory Neuropathy Type 1:



Diseases related to Sensory Neuropathy Type 1

Symptoms & Phenotypes for Sensory Neuropathy Type 1

GenomeRNAi Phenotypes related to Sensory Neuropathy Type 1 according to GeneCards Suite gene sharing:

27 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.7 GABBR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 GJB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.7 GJB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.7 SPTLC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 GJB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.7 GJB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 GABBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 GJB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 GJB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 GABBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 GABBR2 SPTLC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.7 GJB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.7 GABBR2 GJB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.7 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 SPTLC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.7 SPTLC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 SPTLC1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.43 SPTLC1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.43 GABBR2 SPTLC1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.43 SPTLC1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.43 GABBR2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.43 SPTLC1

MGI Mouse Phenotypes related to Sensory Neuropathy Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 GABBR1 GABBR2 GJB1 SPTLC1
2 nervous system MP:0003631 8.92 GABBR1 GABBR2 GJB1 SPTLC1

Drugs & Therapeutics for Sensory Neuropathy Type 1

Drugs for Sensory Neuropathy Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo

Search NIH Clinical Center for Sensory Neuropathy Type 1

Genetic Tests for Sensory Neuropathy Type 1

Anatomical Context for Sensory Neuropathy Type 1

MalaCards organs/tissues related to Sensory Neuropathy Type 1:

42
Brain, Bone, Temporal Lobe

Publications for Sensory Neuropathy Type 1

Articles related to Sensory Neuropathy Type 1:

(show all 20)
# Title Authors Year
1
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. ( 30995999 )
2019
2
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. ( 29778900 )
2018
3
Natural history and biomarkers in hereditary sensory neuropathy type 1. ( 25042817 )
2015
4
X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family. ( 26479765 )
2015
5
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
2014
6
[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. ( 23011429 )
2012
7
Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation. ( 21309765 )
2011
8
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. ( 20097765 )
2010
9
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. ( 20491857 )
2010
10
Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. ( 15337262 )
2004
11
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. ( 15546589 )
2004
12
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. ( 12417569 )
2002
13
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. ( 11242106 )
2001
14
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. ( 11703329 )
2001
15
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
16
Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. ( 9890296 )
1999
17
[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. ( 8914454 )
1996
18
Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report. ( 2291397 )
1990
19
Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. ( 2747736 )
1989
20
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. ( 2797453 )
1989

Variations for Sensory Neuropathy Type 1

Expression for Sensory Neuropathy Type 1

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

Pathways for Sensory Neuropathy Type 1

GO Terms for Sensory Neuropathy Type 1

Cellular components related to Sensory Neuropathy Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.16 GABBR1 GABBR2
2 cell junction GO:0030054 9.13 GABBR1 GABBR2 GJB1
3 G protein-coupled receptor heterodimeric complex GO:0038039 8.62 GABBR1 GABBR2

Biological processes related to Sensory Neuropathy Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-aminobutyric acid signaling pathway GO:0007214 8.96 GABBR1 GABBR2
2 negative regulation of adenylate cyclase activity GO:0007194 8.32 GABBR2

Molecular functions related to Sensory Neuropathy Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled GABA receptor activity GO:0004965 8.62 GABBR1 GABBR2

Sources for Sensory Neuropathy Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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