MCID: SNS009
MIFTS: 32

Sensory Neuropathy Type 1 malady

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

Aliases & Classifications for Sensory Neuropathy Type 1

Aliases & Descriptions 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 Aspirin have been mentioned in the context of this disorder. Affiliated tissues include 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 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 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 top 50) (show all 216)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
2
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1 50-78-2 2244
3
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Propranolol Approved, Investigational Phase 4 525-66-6 4946
6
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
7
Hydroxocobalamin Approved Phase 4,Phase 3 13422-51-0 11953898 5460373 44475014
8
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
9
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
10
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
11
Donepezil Approved Phase 4 120014-06-4 3152
12
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
13
Memantine Approved, Investigational Phase 4 19982-08-2 4054
14
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
15
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
16
Topiramate Approved Phase 4 97240-79-4 5284627
17
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
18
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
19
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
20
Cetirizine Approved Phase 4 83881-51-0 2678
21
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
22
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
23
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
24
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 65-23-6 1054
25
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
26
Pyridoxal Approved, Nutraceutical Phase 4,Phase 3 66-72-8 1050
27
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
28
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 3 68-19-9 44176380
29
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
30 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
31 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
32 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
33 Anesthetics Phase 4,Phase 2,Phase 3
34 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Anesthetics, Local Phase 4,Phase 2,Phase 3
37 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
38 Excitatory Amino Acid Antagonists Phase 4,Phase 3
39 Excitatory Amino Acids Phase 4,Phase 3
40 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
41 Adrenergic Agents Phase 4,Phase 3
42 Adrenergic Antagonists Phase 4
43 Adrenergic beta-1 Receptor Antagonists Phase 4
44 Adrenergic beta-Antagonists Phase 4
45 Sympatholytics Phase 4
46 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
47 Amitriptyline, perphenazine drug combination Phase 4,Phase 3
48 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
49 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
50 Tranquilizing Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 69)
id Name Status NCT ID Phase
1 Lidoderm® (Lidocaine Patch 5%) in Diabetic and Idiopathic Neuropathy Completed NCT00903851 Phase 4
2 Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
3 Frequency Modulated Neural Stimulation (FREMS) in Symptomatic Diabetic Neuropathy Completed NCT01628627 Phase 4
4 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4
5 Quality Improvement and Practice Based Research in Neurology Using the EMR Enrolling by invitation NCT02670161 Phase 4
6 Influence of OCT2 Inhibitor Cetirizine and Type 2 Diabetes on Gabapentin Kinetics Disposition in Patients With Neuropathic Pain Enrolling by invitation NCT03047278 Phase 4
7 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
8 Use of Topical Lidocaine to Reduce Pain in Patients With Diabetic Neuropathy Unknown status NCT01086150 Phase 2, Phase 3
9 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
10 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3
11 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
12 A Randomized Phase III Study of Vitamins B6 and B12 to Prevent Chemotherapy-Induced Neuropathy in Cancer Patients Completed NCT00659269 Phase 3
13 Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00516503 Phase 3
14 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
15 Targeting Inflammation With Salsalate in Type 1 Diabetes Neuropathy Recruiting NCT02936843 Phase 2, Phase 3
16 PHASE III RANDOMISED TRIAL TO EVALUATE FOLFOX WITH OR WITHOUT DOCETAXEL (TFOX) AS 1st LINE CHEMOTHERAPY FOR LOCALLY ADVANCED OR METASTATIC OESOPHAGO-GASTRIC CARCINOMA Recruiting NCT03006432 Phase 3
17 Muscarinic Receptor Antagonists as a Therapy for Diabetic Neuropathy Recruiting NCT03050827 Phase 3
18 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
19 Effect Of Mesenchymal Stem Cells Transfusion on the Diabetic Peripheral Neuropathy Patients . Active, not recruiting NCT02387749 Phase 2, Phase 3
20 Aspirin and Renal Disease Progression in Patients With Type 2 Diabetes Not yet recruiting NCT02895113 Phase 3
21 Efficacy of corticoïd Infiltration Via Sacro-coccygien Hiatus in Discal Sciatica Terminated NCT01482897 Phase 3
22 Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy Withdrawn NCT01492920 Phase 3
23 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
24 Effect of C-Peptide on Diabetic Peripheral Neuropathy Completed NCT00278980 Phase 2
25 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
26 Safety and Efficacy of CBX129801 in Patients With Type 1 Diabetes Completed NCT01681290 Phase 2
27 Clinical Trial of SB-509 in Subjects With Diabetic Neuropathy Completed NCT00476931 Phase 2
28 Stem Cell Mobilization in Diabetic Neuropathy Subjects Receiving SB-509 Completed NCT00665145 Phase 2
29 Clinical Trial of SB-509 in Subjects With Diabetic Neuropathy Completed NCT01079325 Phase 2
30 Safety and Pharmacokinetics of CBX129801 in Patients With Type 1 Diabetes Completed NCT01293461 Phase 1, Phase 2
31 Pilot Study to Determine Effects of Salsalate in Type 1 Diabetes and Painful Peripheral Neuropathy Completed NCT01480297 Phase 2
32 Painful Diabetic Polyneuropathy Trial With a New Centrally Acting Analgesic Completed NCT00878293 Phase 2
33 Cetuximab and Lenalidomide in Head and Neck Completed NCT01133665 Phase 2
34 Efficacy of Pirfenidone Plus MODD in Diabetic Foot Ulcers Completed NCT02632877 Phase 1, Phase 2
35 Bortezomib and Thalidomide in Treating Patients With Newly Diagnosed Stage II or Stage III Multiple Myeloma Completed NCT00287872 Phase 2
36 Bortezomib (Velcade) in Patients With Untreated Multiple Myeloma Completed NCT00153920 Phase 2
37 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
38 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
39 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2
40 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Active, not recruiting NCT01733407 Phase 1, Phase 2
41 Adaptive Study of IL-2 Dose Frequency on Regulatory T Cells in Type 1 Diabetes Active, not recruiting NCT02265809 Phase 1, Phase 2
42 Bortezomib (Velcade) With Standard Chemotherapy for Relapsed or Refractory Follicular Lymphoma Terminated NCT00510887 Phase 2
43 Biological Effect of Nab-paclitaxel Combined to Gemcitabine in Metastatic Pancreatic Cancer Completed NCT02174887 Phase 1
44 Vitamin C Supplementation as a Preventive Treatment of Diabetic Peripheral Neuropathy Completed NCT00634998 Phase 1
45 Arsenic Trioxide and Ascorbic Acid Combined With Bortezomib, Thalidomide, and Dexamethasone in Treating Patients With Relapsed or Refractory Multiple Myeloma or Plasma Cell Leukemia Completed NCT00258245 Phase 1
46 Endogenous Progenitors Cell Therapy for Diabetic Foot Ulcers Withdrawn NCT01353937 Phase 1
47 Two Measures of Tactile Acuity in CRPS Type I Patients Unknown status NCT01888783
48 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
49 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
50 Small-fiber Neuropathy in Chronic Kidney Disease Unknown status NCT01078857

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
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
Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. ( 25042817 )
2014
3
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
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
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 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. ( 15546589 )
2004
10
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. ( 12417569 )
2002
11
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. ( 11242106 )
2001
12
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. ( 11703329 )
2001
13
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
14
Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. ( 9890296 )
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

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