HSAN
MCID: HRD021
MIFTS: 46

Hereditary Sensory Neuropathy (HSAN) malady

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

Aliases & Classifications for Hereditary Sensory Neuropathy

Aliases & Descriptions for Hereditary Sensory Neuropathy:

Name: Hereditary Sensory Neuropathy 12 14
Hereditary Sensory and Autonomic Neuropathy 12 50
Congenital Insensitivity to Pain 12 50
Channelopathy-Associated Congenital Insensitivity to Pain 50
Hereditary Sensory and Autonomic Neuropathies 69
Hereditary Sensory Autonomic Neuropathy 50
Indiferencia Congénita Al Dolor 50
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 69
Sensory Neuropathy Hereditary 52
Channelopathy-Associated Cip 50
Hsan 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050548

Summaries for Hereditary Sensory Neuropathy

NIH Rare Diseases : 50 congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. affected individuals  are unable to feel pain in any part of their body. over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. congenital insensitivity to pain is caused by mutations in the scn9a gene and, in rare cases, is caused by mutations in the pmrd12 gene. it is inherited in an autosomal recessive pattern.  congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain. it is part of a group known as hereditary sensory and autonomic neuropathies. last updated: 1/26/2016

MalaCards based summary : Hereditary Sensory Neuropathy, also known as hereditary sensory and autonomic neuropathy, is related to congenital insensitivity to pain with severe intellectual disability and congenital insensitivity to pain-hypohidrosis syndrome. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Brain-Derived Neurotrophic Factor (BDNF) signaling pathway and Guidance Cues and Growth Cone Motility. The drugs Diclofenac and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Disease Ontology : 12 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.

Wikipedia : 71 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

Related Diseases for Hereditary Sensory Neuropathy

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Ib Sensory Neuropathy Type 1

Diseases related to Hereditary Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 congenital insensitivity to pain with severe intellectual disability 12.2
2 congenital insensitivity to pain-hypohidrosis syndrome 12.1
3 congenital insensitivity to pain with hyperhidrosis 12.1
4 neuropathy, hereditary sensory and autonomic, type ia 11.8
5 neuropathy, hereditary sensory, type ie 11.7
6 neuropathy, hereditary sensory, type id 11.6
7 neuropathy, hereditary sensory, type if 11.6
8 neuropathy, hereditary sensory, type ib 11.5
9 hereditary sensory and autonomic neuropathy type 1e 11.2
10 neuropathy, hereditary sensory and autonomic, type ii 11.1
11 neuropathy, hereditary sensory and autonomic, type ic 11.0
12 neuropathy, recurrent, with pressure palsies 11.0
13 neuropathy, congenital hypomyelinating 11.0
14 neuropathy, hereditary sensory and autonomic, type v 10.9
15 insensitivity to pain, congenital, with anhidrosis 10.9
16 dnmt1-related dementia, deafness, and sensory neuropathy 10.9
17 dysautonomia, familial 10.9
18 neuropathy, hereditary sensory, type iic 10.9
19 neuropathy, hereditary sensory and autonomic, type vi 10.9
20 hereditary neuropathies 10.9
21 familial syringomyelia 10.9
22 neuropathy 10.7
23 deafness, autosomal recessive 102 10.2 KIF1A WNK1
24 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.2 NTRK1 SPTLC1
25 sensory neuropathy type 1 10.2
26 spastic paraplegia facial cutaneous lesions 10.1 ATL1 KIF1A
27 cerebral atrophy 10.1 SPTLC1 SPTLC2 WNK1
28 tp63-related disorders 10.1 ATL1 ATL3
29 gall bladder carcinoma in situ 10.1 NGF NTRK1
30 hereditary spastic paraplegia 72 10.1 ATL1 ATL3
31 lung occult small cell carcinoma 10.1 NGF NTRK1
32 spasticity 10.1
33 appendix carcinoid tumor 10.0 NGF NTRK1
34 chondrocalcinosis 2 10.0 CCT5 KIF1A
35 familial spastic paralysis 10.0 NGF NTRK2
36 paraplegia 10.0
37 dementia 10.0
38 scleroperikeratitis 10.0 NGF NTRK1
39 rh isoimmunization 10.0 NTRK1 NTRK2
40 c5 deficiency 10.0 NGF NTRK2
41 respiratory failure 10.0 NGF NTRK1
42 myoepithelial carcinoma 10.0 NTRK1 NTRK2
43 dystonia 9.9
44 leprosy 9.9
45 keratitis 9.9
46 mucolipidosis iv 9.9 ATL1 ATL3 SPTLC1 SPTLC2
47 pallister-hall syndrome 9.9 NGF NTRK1
48 postmenopausal atrophic vaginitis 9.9 NGF NTRK1 NTRK2
49 cystadenoma 9.9 NGF NTRK1 NTRK2
50 gastroesophageal reflux 9.9

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



Diseases related to Hereditary Sensory Neuropathy

Symptoms & Phenotypes for Hereditary Sensory Neuropathy

GenomeRNAi Phenotypes related to Hereditary Sensory Neuropathy 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-149 9.58 SPTLC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 NGF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 NGF NTRK1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 NGF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 SPTLC1 NGF NTRK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 NTRK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 NGF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 NTRK1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 SPTLC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 SPTLC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 NTRK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 SPTLC1

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 ATL1 KIF1A NGF NINJ1 NTRK1 NTRK2
2 nervous system MP:0003631 9.17 SPTLC1 WNK1 KIF1A NGF NINJ1 NTRK1

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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

(show top 50) (show all 130)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
3
Propranolol Approved, Investigational Phase 4 525-66-6 4946
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
6 Analgesics Phase 4,Phase 3,Phase 2
7 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
8 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1
9 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
10 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Thioctic Acid Phase 4,Phase 2
12 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
13 Vitamin B Complex Phase 4,Phase 2,Phase 3
14 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
15 Adrenergic Agents Phase 4,Phase 3,Phase 2
16 Adrenergic Antagonists Phase 4
17 Adrenergic beta-1 Receptor Antagonists Phase 4
18 Adrenergic beta-Antagonists Phase 4
19 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
20 Anti-Arrhythmia Agents Phase 4,Phase 2
21 Antihypertensive Agents Phase 4
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2
25 Autonomic Agents Phase 4,Phase 3,Phase 2
26 Cyclooxygenase Inhibitors Phase 4,Phase 2
27 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
28 Sympatholytics Phase 4
29 Vasodilator Agents Phase 4
30 Anesthetics Phase 4
31 Diuretics, Potassium Sparing Phase 4,Phase 2
32 Sodium Channel Blockers Phase 4,Phase 2
33 Hormone Antagonists Phase 4,Phase 2
34 Hormones Phase 4,Phase 2
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
36 Immunosuppressive Agents Phase 4,Phase 2
37 Alpha-lipoic Acid Nutraceutical Phase 4,Phase 2
38 Folate Nutraceutical Phase 4,Phase 2,Phase 3
39 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
40
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359 38101
41
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
42
Ipratropium Approved Phase 3 22254-24-6, 60205-81-4 43232
43
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 1
44
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
45
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
46 4-des-dimethylaminotetracycline Phase 2, Phase 3
47 Antiparkinson Agents Phase 3,Phase 2
48 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
49 Dopamine Agents Phase 3,Phase 2
50
Curcumin Phase 3 458-37-7 969516

Interventional clinical trials:

(show top 50) (show all 76)
id Name Status NCT ID Phase
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4
3 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
4 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
5 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3
6 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
7 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
8 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3
9 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
10 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
11 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
12 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
13 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
14 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
15 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3
16 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
17 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
18 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
19 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
20 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
21 Carbidopa for the Treatment of Excessive Blood Pressure Variability Recruiting NCT02553265 Phase 2
22 Influence of Pronator Teres Release on Treatment of Median Nerve Compression Neuropathy Recruiting NCT01562860 Phase 2
23 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2
24 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
25 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
26 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
27 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2
28 The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia Recruiting NCT02276716 Phase 2
29 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
30 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2
31 Celecoxib for Thyroid Eye Disease Recruiting NCT02845336 Phase 2
32 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Active, not recruiting NCT01733407 Phase 1, Phase 2
33 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Active, not recruiting NCT02314208 Phase 2
34 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2
35 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1
36 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1
37 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Unknown status NCT02194010
38 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
39 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
40 Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT Unknown status NCT01203085
41 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
42 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
43 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
44 Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
45 Follow up and Observation of Charcot Marie Tooth Disease in Families Completed NCT00149045
46 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
47 Development and Validation of a Disability Severity Index for CMT Completed NCT01455623
48 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
49 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Strategy Completed NCT03062722
50 Diagnosis of Carpal Tunnel Syndrome: Effectiveness of Diagnostic Tests. Clinical Trial of Accuracy Completed NCT02553811

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Genetic Tests for Hereditary Sensory Neuropathy

Anatomical Context for Hereditary Sensory Neuropathy

MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

39
Spinal Cord, Brain, Tongue, Testes, Bone, Trigeminal Ganglion

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 106)
id Title Authors Year
1
Painless Ulcers and Fissures of Toes: Hereditary Sensory Neuropathy, Not Leprosy. ( 26955138 )
2016
2
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. ( 26573920 )
2015
3
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy. ( 25124038 )
2014
4
Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. ( 25042817 )
2014
5
Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux. ( 24760089 )
2014
6
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
2014
7
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. ( 24327336 )
2013
8
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. ( 22340599 )
2012
9
Mutation in FAM134B causing severe hereditary sensory neuropathy. ( 21115472 )
2012
10
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. ( 22910560 )
2012
11
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. ( 21762444 )
2011
12
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. ( 21532572 )
2011
13
Targeted high-throughput sequencing identifies mutations in atlastin- 1 as a cause of hereditary sensory neuropathy type I. ( 21194679 )
2011
14
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. ( 20097765 )
2010
15
A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection. ( 20511489 )
2010
16
[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. ( 19361385 )
2009
17
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. ( 19132419 )
2009
18
Three patients in a Chinese family with hereditary sensory neuropathy mimicking leprosy. ( 19274992 )
2008
19
Hereditary sensory neuropathy type I. ( 18348718 )
2008
20
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. ( 18521183 )
2008
21
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. ( 16373086 )
2006
22
Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings. ( 16271825 )
2006
23
Molecular genetics of hereditary sensory neuropathies. ( 16775373 )
2006
24
Progressive external ophthalmoplegia with hereditary sensory neuropathy: a rare association. ( 15756139 )
2005
25
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. ( 16311270 )
2005
26
Hereditary sensory neuropathies. ( 15319794 )
2004
27
Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. ( 15337262 )
2004
28
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. ( 15037712 )
2004
29
Hereditary sensory neuropathy with spastic paraplegia. ( 15253057 )
2004
30
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. ( 15546589 )
2004
31
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. ( 12874111 )
2003
32
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. ( 12870133 )
2003
33
Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. ( 11781309 )
2002
34
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. ( 12207934 )
2002
35
Hereditary sensory neuropathy-type-II. ( 17657011 )
2002
36
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. ( 12417569 )
2002
37
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. ( 11801401 )
2002
38
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. ( 11242114 )
2001
39
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. ( 11479835 )
2001
40
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. ( 11242106 )
2001
41
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. ( 10636124 )
2000
42
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. ( 11003785 )
2000
43
Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis. ( 10942106 )
2000
44
Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. ( 10210919 )
1999
45
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. ( 10232753 )
1999
46
Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. ( 10025779 )
1999
47
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
48
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. ( 9722951 )
1998
49
The human homologue of the ninjurin gene maps to the candidate region of hereditary sensory neuropathy type I (HSNI). ( 9465296 )
1998
50
Non-union of the ulna in a ten-month-old child who had type-IV hereditary sensory neuropathy. A case report. ( 9278084 )
1997

Variations for Hereditary Sensory Neuropathy

Expression for Hereditary Sensory Neuropathy

Search GEO for disease gene expression data for Hereditary Sensory Neuropathy.

Pathways for Hereditary Sensory Neuropathy

Pathways related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.59 NGF NTRK1 NTRK2
2 11.4 NGF NTRK1 NTRK2
3 10.97 NTRK1 NTRK2
4
Show member pathways
10.92 NGF NTRK1 NTRK2
5
Show member pathways
9.84 NGF NTRK1 NTRK2

GO Terms for Hereditary Sensory Neuropathy

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum tubular network GO:0071782 8.96 ATL1 ATL3
2 serine C-palmitoyltransferase complex GO:0017059 8.62 SPTLC1 SPTLC2

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.7 NTRK1 NTRK2 WNK1
2 negative regulation of neuron apoptotic process GO:0043524 9.65 NGF NTRK1 NTRK2
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.61 NGF NTRK1 NTRK2
4 activation of MAPKK activity GO:0000186 9.58 NGF NTRK1
5 sphingolipid biosynthetic process GO:0030148 9.58 SPTLC1 SPTLC2
6 microtubule-based movement GO:0007018 9.58 KIF1A NGF NTRK1
7 biosynthetic process GO:0009058 9.57 SPTLC1 SPTLC2
8 sphingolipid metabolic process GO:0006665 9.56 SPTLC1 SPTLC2
9 positive regulation of axonogenesis GO:0050772 9.55 NGF NTRK2
10 ceramide biosynthetic process GO:0046513 9.54 SPTLC1 SPTLC2
11 endoplasmic reticulum organization GO:0007029 9.51 ATL1 ATL3
12 positive regulation of Ras protein signal transduction GO:0046579 9.49 NGF NTRK1
13 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 NGF NTRK1
14 sphingosine biosynthetic process GO:0046512 9.37 SPTLC1 SPTLC2
15 sphingomyelin biosynthetic process GO:0006686 9.32 SPTLC1 SPTLC2
16 positive regulation of lipophagy GO:1904504 9.26 SPTLC1 SPTLC2
17 mechanoreceptor differentiation GO:0042490 9.16 NTRK1 NTRK2
18 neurotrophin signaling pathway GO:0038179 8.96 NTRK1 NTRK2
19 sphinganine biosynthetic process GO:0046511 8.62 SPTLC1 SPTLC2

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

id Name GO ID Score Top Affiliating Genes
1 serine C-palmitoyltransferase activity GO:0004758 9.16 SPTLC1 SPTLC2
2 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK2
3 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK2

Sources for Hereditary Sensory Neuropathy

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....