MCID: SNS009
MIFTS: 30

Sensory Neuropathy Type 1

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

Aliases & Classifications for Sensory Neuropathy Type 1

MalaCards integrated aliases for Sensory Neuropathy Type 1:

Name: Sensory Neuropathy Type 1 50

Classifications:



Summaries for Sensory Neuropathy Type 1

MalaCards based summary : Sensory Neuropathy Type 1 is related to motor sensory neuropathy type 1 aplasia cutis congenita and neuropathy, hereditary sensory, type ie. 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 cAMP signaling pathway and Potassium Channels. The drugs Lidocaine and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

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:

26
id 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 SPTLC1 GABBR2
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 GJB1 GABBR2
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 SPTLC1 GABBR2
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:

44
id 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):

(show all 47)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
3
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
6
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
7
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
8 Anesthetics Phase 4
9 Anesthetics, Local Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Central Nervous System Depressants Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Peripheral Nervous System Agents Phase 4
14 Sodium Channel Blockers Phase 4
15 Micronutrients Phase 4,Phase 2
16 Trace Elements Phase 4,Phase 2
17 Vitamin B 12 Phase 4
18 Vitamin B 6 Phase 4
19 Vitamin B Complex Phase 4
20 Vitamins Phase 4,Phase 2
21
Cobalamin Nutraceutical Phase 4 13408-78-1 6438156
22 Folate Nutraceutical Phase 4
23
Methylcobalamin Experimental, Nutraceutical Phase 4 13422-55-4
24
Pyridoxal Phosphate Nutraceutical Phase 4 54-47-7 1051
25 Vitamin B12 Nutraceutical Phase 4
26 Vitamin B9 Nutraceutical Phase 4
27 4-des-dimethylaminotetracycline Phase 2, Phase 3
28 Pharmaceutical Solutions Phase 3,Phase 2
29
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
30 Antioxidants Phase 2
31 Protective Agents Phase 2
32 serine Nutraceutical Phase 1, Phase 2
33
Amphotericin B Approved, Investigational 1397-89-3 14956 5280965
34
Streptomycin Approved, Vet_approved 57-92-1 19649
35
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
36
Liraglutide Approved 204656-20-2 44147092
37 Liposomal amphotericin B
38 Mitogens
39 penicillins
40 Cortisol succinate
41 Hydrocortisone 17-butyrate 21-propionate
42 Hydrocortisone acetate
43 Hormone Antagonists
44 Hormones
45 Hormones, Hormone Substitutes, and Hormone Antagonists
46 Hypoglycemic Agents
47 Incretins

Interventional clinical trials:

(show all 24)

id Name Status NCT ID Phase Drugs
1 Lidoderm® (Lidocaine Patch 5%) in Diabetic and Idiopathic Neuropathy Completed NCT00903851 Phase 4 Lidoderm
2 Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
3 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
4 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
5 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
7 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
8 Effect of C-Peptide on Diabetic Peripheral Neuropathy Completed NCT00278980 Phase 2 C-peptide
9 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
10 Safety and Efficacy of CBX129801 in Patients With Type 1 Diabetes Completed NCT01681290 Phase 2 CBX129801
11 Clinical Trial of SB-509 in Subjects With Diabetic Neuropathy Completed NCT00476931 Phase 2
12 Stem Cell Mobilization in Diabetic Neuropathy Subjects Receiving SB-509 Completed NCT00665145 Phase 2 SB-509;SB-509;Placebo;SB-509
13 Clinical Trial of SB-509 in Subjects With Diabetic Neuropathy Completed NCT01079325 Phase 2 SB-509
14 Safety and Pharmacokinetics of CBX129801 in Patients With Type 1 Diabetes Completed NCT01293461 Phase 1, Phase 2 CBX129801;Placebo
15 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2 MD1003
16 Two Measures of Tactile Acuity in CRPS Type I Patients Unknown status NCT01888783
17 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
18 NIR- and Multifrequent Impedance Spectroscopy on the Skin in Type 1 Diabetes Completed NCT01707979
19 Effect Of Mesenchymal Stem Cells Transfusion on the Diabetic Peripheral Neuropathy Patients . Completed NCT02387749
20 The Effect of Mindfulness Based Stress Reduction in Patients With Painful Diabetic Peripheral Neuropathy Completed NCT02127762
21 Assessment of the Prevalence of Small Fiber Peripheral Neuropathy Among Non-diabetic Obese Patients Recruiting NCT02767583
22 Corneal Confocal Microscopy to Detect Diabetic Neuropathy in Children Active, not recruiting NCT02321904
23 Evaluation of Corneal Confocal Microscopy for the Identification and Prediction of Neuropathy in Type 1 Diabetes Enrolling by invitation NCT02423434
24 Treatment of Diabetic Neuropathy With Liraglutide Enrolling by invitation NCT02138045 Placebo treatment;Liraglutide treatment

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:

39
Skin, Brain

Publications for Sensory Neuropathy Type 1

Articles related to Sensory Neuropathy Type 1:

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of adenylate cyclase activity GO:0007194 8.96 GABBR1 GABBR2
2 gamma-aminobutyric acid signaling pathway GO:0007214 8.62 GABBR1 GABBR2

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

id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....