Hereditary Sensory Neuropathy (HSAN)

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Aliases & Classifications for Hereditary Sensory Neuropathy

MalaCards integrated aliases for Hereditary Sensory Neuropathy:

Name: Hereditary Sensory Neuropathy 11 14
Hereditary Sensory and Autonomic Neuropathy 11 19 58 28 5 75
Hereditary Sensory and Autonomic Neuropathies 43 71
Neuropathy, Sensory and Autonomic, Hereditary 38
Cmt - [charcot-Marie-Tooth Disease] 33
Neuropathy, Sensory, Hereditary 38
Familial Dysautonomia, Type Ii 11
Sensory Neuropathy, Hereditary 71
Sensory Neuropathy Hereditary 53
Charcot-Marie-Tooth Disease 33
Hsan 58


Orphanet: 58  
Rare neurological diseases

External Ids:

Disease Ontology 11 DOID:0050548
MeSH 43 D009477
MESH via Orphanet 44 D009477
ICD10 via Orphanet 32 G60.8
UMLS via Orphanet 72 C0027889
Orphanet 58 ORPHA140471
UMLS 71 C0027889 C0699739

Summaries for Hereditary Sensory Neuropathy

GARD: 19 Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function. HSAN type I is the most common form of HSAN. It is caused by a genetic change in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by genetic changes in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by genetic changes in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by genetic changes in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by genetic changes in the NGFB gene and inherited in an autosomal recessive manner.

MalaCards based summary: Hereditary Sensory Neuropathy, also known as hereditary sensory and autonomic neuropathy, is related to insensitivity to pain, congenital, with anhidrosis and neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Neuroscience and Signaling by NTRKs. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include tongue, spinal cord and tonsil, and related phenotypes are growth/size/body region and nervous system

Disease Ontology: 11 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.

Wikipedia: 75 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 Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sptlc1-Related Hereditary Sensory Neuropathy

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

(show top 50) (show all 753)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 33.1 NTRK1 BDNF
2 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 33.0 SPTLC2 SPTLC1 HSN1B
3 neuropathy, hereditary sensory, type id 32.9 SPTLC2 SPTLC1 ATL1
4 hereditary sensory and autonomic neuropathy type 1 32.7 SPTLC2 SPTLC1 SCN9A RETREG1 PRDM12 ELP1
5 neuropathy, hereditary sensory and autonomic, type ia 32.4 WNK1 SPTLC2 SPTLC1 ELP1
6 neuropathy, hereditary sensory and autonomic, type vi 32.4 SPTLC2 RETREG1 PRDM12 KIF1A ELP1 ATL3
7 neuropathy, hereditary sensory and autonomic, type ic 32.3 SPTLC2 SPTLC1
8 neuropathy, hereditary sensory and autonomic, type iii 32.2 U2AF1 NTRK2 NTRK1 NGF ELP6 ELP1
9 amyotrophic lateral sclerosis 1 32.1 U2AF1 SPTLC1 NTRK2 NTRK1 NGF H2AC18
10 neuropathy, hereditary sensory and autonomic, type iia 32.0 WNK1 SPTLC1 SCN9A RETREG1 NTRK1 NGF
11 neuromuscular disease 31.8 SPTLC1 KIF1A H2AC18 BDNF
12 neuropathy, hereditary sensory and autonomic, type viii 31.8 SPTLC2 SPTLC1 RETREG1 PRDM12 KIF1A ELP1
13 neuropathy, hereditary sensory and autonomic, type v 31.7 WNK1 SPTLC2 SPTLC1 SCN9A RETREG1 PRDM12
14 neuropathy, hereditary sensory and autonomic, type vii 31.7 SPTLC2 SPTLC1 SCN9A RETREG1 PRDM12 KIF1A
15 sensory peripheral neuropathy 31.5 SPTLC1 RETREG1 NTRK1 NGF FLVCR1 CCT5
16 neuronopathy, distal hereditary motor, type iib 31.3 SPTLC2 SPTLC1
17 trigeminal neuralgia 31.1 SCN9A NTRK1 NGF BDNF
18 neuronopathy, distal hereditary motor, type va 31.0 KIF1A CCT5 ATL1
19 motor neuron disease 31.0 U2AF1 SPTLC1 H2AC18 BDNF
20 diabetic neuropathy 31.0 SCN9A NTRK1 NGF BDNF
21 neuropathy 30.9 WNK1 SPTLC2 SPTLC1 SCN9A RETREG1 NTRK1
22 autonomic nervous system disease 30.8 SCN9A NGF BDNF
23 pain agnosia 30.8 SCN9A NGF BDNF
24 anhidrosis 30.7 SPTLC1 SCN9A PRDM12 NTRK1 NGF
25 spastic paraplegia 3a 30.7 ATL3 ATL1
26 chronic pain 30.6 SCN9A BDNF
27 amnestic disorder 30.6 NTRK2 NGF BDNF
28 complex regional pain syndrome 30.6 SCN9A NGF BDNF
29 charcot-marie-tooth disease 30.5 SPTLC2 SPTLC1 NGF KIF1A H2AC18 BDNF
30 autonomic neuropathy 30.5 WNK1 SPTLC2 SPTLC1 RETREG1 PRDM12 NTRK1
31 reflex sympathetic dystrophy 30.5 SCN9A NGF
32 paine syndrome 30.5 SCN9A NGF H2AC18 BDNF
33 toxic encephalopathy 30.4 NTRK2 NGF H2AC18 BDNF
34 vasomotor rhinitis 30.3 PRDM12 ELP6
35 neuropathy, hereditary sensory and autonomic, type iib 30.3 SCN9A RETREG1 CCT5
36 neurogenic arthropathy 30.3 SPTLC1 SCN9A NTRK1 NGF
37 erythromelalgia 30.2 U2AF1 SCN9A NGF
38 hereditary spastic paraplegia 30.2 SPTLC1 RETREG1 KIF1A CCT5 BDNF ATL3
39 peripheral nervous system disease 30.2 U2AF1 SPTLC1 SCN9A NTRK2 NTRK1 NGF
40 hereditary spastic paraplegia 30 30.2 KIF1A ATL1
41 retinitis pigmentosa 29.6 U2AF1 NTRK2 NTRK1 NGF H2AC18 FLVCR1
42 charcot-marie-tooth disease, axonal, type 2e 12.4
43 charcot-marie-tooth disease and deafness 12.3
44 charcot-marie-tooth disease, demyelinating, type 1a 12.2
45 charcot-marie-tooth disease, axonal, type 2b1 12.2
46 charcot-marie-tooth disease, x-linked dominant, 1 12.2
47 charcot-marie-tooth disease, axonal, type 2b2 12.2
48 charcot-marie-tooth disease, type 4a 12.2
49 charcot-marie-tooth disease, type 4b1 12.2
50 charcot-marie-tooth disease, type 4b2 12.2

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

Diseases related to Hereditary Sensory Neuropathy

Symptoms & Phenotypes for Hereditary Sensory Neuropathy

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ATL3 BDNF CCT5 ELP1 FLVCR1 KIF1A
2 nervous system MP:0003631 10.06 BDNF ELP1 KIF1A NGF NTRK1 NTRK2
3 behavior/neurological MP:0005386 10 ATL1 BDNF CCT5 ELP1 ELP6 KIF1A
4 mortality/aging MP:0010768 9.83 BDNF CCT5 ELP1 ELP6 FLVCR1 KIF1A
5 integument MP:0010771 9.36 BDNF CCT5 ELP1 FLVCR1 KIF1A NGF

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Lipoic acid Approved, Investigational, Nutraceutical Phase 4 1200-22-2 864 6112
3 Folate Phase 4
4 Vitamins Phase 4
5 Vitamin B9 Phase 4
6 Trace Elements Phase 4
7 Vitamin B Complex Phase 4
8 Micronutrients Phase 4
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11 Alpha-lipoic Acid Phase 4
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8
Baclofen Approved Phase 3 1134-47-0 2284
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
Ethanol Approved Phase 3 64-17-5 702
Ascorbic acid Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54676860 54670067 5785
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2, Phase 3 461-06-3
19 Nootropic Agents Phase 2, Phase 3
20 Pharmaceutical Solutions Phase 3
21 Cathartics Phase 3
22 Neurotransmitter Agents Phase 3
23 Laxatives Phase 3
24 GABA Agonists Phase 3
25 Gastrointestinal Agents Phase 3
26 Narcotic Antagonists Phase 3
27 Narcotics Phase 3
28 Neuroprotective Agents Phase 2, Phase 3
Epoetin Alfa Phase 2, Phase 3
30 Hematinics Phase 2, Phase 3
Mexiletine Approved, Investigational Phase 2 5370-01-4, 31828-71-4 4178
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 253 171548
Ubidecarenone Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34 Vitamin B7 Phase 2
35 Ubiquinone Phase 1, Phase 2
Ulipristal acetate Phase 2 126784-99-4 13559282 130904
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
Iron Approved 7439-89-6 29936
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
Ropivacaine Approved 84057-95-4 71273 175805
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
Chitosan low molecular weight (20-200 mpa.s) Experimental 14257-69-3, 9012-76-4 441477 71853
45 Analgesics
46 Calciferol
47 Calcium, Dietary
48 Insulin, Globin Zinc
50 Immunosuppressive Agents

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Phase III Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Treated 15 Months Recruiting NCT05092841 Phase 3 PXT3003;PXT3003 placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Active, not recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
10 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
11 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
12 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
13 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
14 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
15 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
16 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
17 Single Center, Open Label, Repeat Intramuscular Administration, 270 Days, Phase I/2a Clinical Trial to Evaluate Safety, Tolerability of Investigational Product (Engensis: VM202) With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A) Completed NCT05361031 Phase 1, Phase 2
18 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
19 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
20 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Suspended NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
21 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
22 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
23 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
24 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
25 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
26 Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A Recruiting NCT05333406 Phase 1 EN001
27 Painful Channelopathies Study Unknown status NCT02696746
28 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
29 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Unknown status NCT03550300
30 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
31 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
32 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
33 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Completed NCT02876939
34 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
35 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
36 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
37 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
38 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
39 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
40 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
41 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
42 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
43 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
44 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
45 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
46 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
47 An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls Completed NCT04980807
48 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
49 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
50 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Cochrane evidence based reviews: hereditary sensory and autonomic neuropathies

Genetic Tests for Hereditary Sensory Neuropathy

Genetic tests related to Hereditary Sensory Neuropathy:

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy 28

Anatomical Context for Hereditary Sensory Neuropathy

Organs/tissues related to Hereditary Sensory Neuropathy:

MalaCards : Tongue, Spinal Cord, Tonsil, Skeletal Muscle, Dorsal Root Ganglion, Skin, Bone Marrow

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 4034)
# Title Authors PMID Year
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. 53 62
16373086 2006
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. 53 62
16311270 2005
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. 53 62
12207934 2002
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. 53 62
10567924 2000
Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II. 53 62
8895241 1996
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. 62
35986567 2022
Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI. 62
36151728 2022
A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model. 62
36287202 2022
A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication. 62
36350884 2022
A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis. 62
36087283 2022
Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S. 62
36413117 2022
No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort. 62
36431311 2022
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis. 62
36204986 2022
The 2022 Lady Estelle Wolfson lectureship on neurofilaments. 62
35950263 2022
Young infants with PMP22 duplication can have minor nerve conduction study abnormalities. 62
36253232 2022
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. 62
35148379 2022
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC. 62
36282036 2022
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. 62
34875719 2022
Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond. 62
36448457 2022
Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature. 62
36475157 2022
Autophagic lysosome reformation in health and disease. 62
36409033 2022
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study. 62
35770518 2022
A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. 62
36394156 2022
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. 62
36376020 2022
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease. 62
36458502 2022
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. 62
36403785 2022
Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. 62
36397455 2022
Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice. 62
36417761 2022
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. 62
36434903 2022
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. 62
36307205 2022
1-Deoxysphingolipid synthesis compromises anchorage-independent growth and plasma membrane endocytosis in cancer cells. 62
36115594 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. 62
35815345 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. 62
36260368 2022
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. 62
36203352 2022
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. 62
36314052 2022
Hereditary motor and sensory neuropathy with SOD1-mutant: A case report. 62
36316849 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. 62
35790048 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. 62
36242072 2022
Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. 62
33587240 2022
Identification of sensory dysfunction and nervous structure changes in Fam134b knockout mice. 62
36302074 2022
Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: An evaluation using comprehensive gait analysis techniques. 62
36179412 2022
Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease. 62
36380896 2022
Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data. 62
36198750 2022
Blood biomarkers of peripheral neuropathy. 62
35611606 2022
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. 62
36241230 2022
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis. 62
36284339 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins. 62
35900868 2022
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability 62
36137062 2022
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study. 62
36005469 2022
WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway. 62
36151370 2022

Variations for Hereditary Sensory Neuropathy

ClinVar genetic disease variations for Hereditary Sensory Neuropathy:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLVCR1 NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser) SNV Likely Pathogenic
916537 rs1664140651 GRCh37: 1:213032524-213032524
GRCh38: 1:212859182-212859182
2 NTRK1 NM_002529.4(NTRK1):c.717+1G>C SNV Uncertain Significance
637913 rs569227032 GRCh37: 1:156838440-156838440
GRCh38: 1:156868648-156868648
3 NTRK1 NM_002529.4(NTRK1):c.2162T>C (p.Phe721Ser) SNV Uncertain Significance
637914 rs1571704043 GRCh37: 1:156849906-156849906
GRCh38: 1:156880114-156880114
4 ELP1 NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) SNV Likely Benign
372384 rs139703788 GRCh37: 9:111673437-111673437
GRCh38: 9:108911157-108911157
5 ELP1 NM_003640.5(ELP1):c.209G>A (p.Arg70His) SNV Likely Benign
364581 rs111936933 GRCh37: 9:111692143-111692143
GRCh38: 9:108929863-108929863
6 ELP1 NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) SNV Likely Benign
509943 rs35455790 GRCh37: 9:111665872-111665872
GRCh38: 9:108903592-108903592

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
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11 10.65 NTRK2 BDNF
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GO Terms for Hereditary Sensory Neuropathy

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

# Name GO ID Score Top Affiliating Genes
1 elongator holoenzyme complex GO:0033588 9.56 ELP6 ELP1
2 axon GO:0030424 9.47 SCN9A NTRK2 NTRK1 NGF KIF1A BDNF
3 endoplasmic reticulum tubular network membrane GO:0098826 9.46 ATL3 ATL1
4 serine C-palmitoyltransferase complex GO:0017059 9.26 SPTLC2 SPTLC1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.11 NTRK2 NTRK1 NGF BDNF
2 positive regulation of synapse assembly GO:0051965 10.01 NTRK2 NTRK1 BDNF
3 endoplasmic reticulum organization GO:0007029 9.97 RETREG1 ATL3 ATL1
4 negative regulation of neuron apoptotic process GO:0043524 9.85 RETREG1 NTRK2 NTRK1 NGF BDNF
5 positive regulation of collateral sprouting GO:0048672 9.83 NGF BDNF
6 positive regulation of lipophagy GO:1904504 9.78 SPTLC2 SPTLC1
7 brain-derived neurotrophic factor receptor signaling pathway GO:0031547 9.76 NTRK2 BDNF
8 mechanoreceptor differentiation GO:0042490 9.73 NTRK1 NTRK2
9 behavioral response to formalin induced pain GO:0061368 9.71 NTRK1 SCN9A
10 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.65 SCN9A PRDM12 NTRK1
11 sphinganine biosynthetic process GO:0046511 9.62 SPTLC2 SPTLC1
12 neurotrophin signaling pathway GO:0038179 9.54 NTRK2 NTRK1
13 sensory perception of pain GO:0019233 9.5 SCN9A RETREG1 PRDM12 NTRK1
14 nerve growth factor signaling pathway GO:0038180 9.1 NTRK1 NGF BDNF

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

# Name GO ID Score Top Affiliating Genes
1 nerve growth factor receptor binding GO:0005163 9.56 NGF BDNF
2 serine C-palmitoyltransferase activity GO:0004758 9.46 SPTLC2 SPTLC1
3 neurotrophin binding GO:0043121 9.26 NTRK2 NTRK1
4 neurotrophin receptor activity GO:0005030 8.92 NTRK2 NTRK1

Sources for Hereditary Sensory Neuropathy

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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