CIP
MCID: NRP037
MIFTS: 54

Neuropathy, Hereditary Sensory and Autonomic, Type V (CIP) malady

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

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type V

Aliases & Descriptions for Neuropathy, Hereditary Sensory and Autonomic, Type V:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type V 54 50 13
Hsan5 50 24 25 56 66
Hereditary Sensory and Autonomic Neuropathy Type V 50 24 25 56
Hsan V 50 24 25 66
Indifference to Pain, Congenital, Autosomal Recessive 54 25 66
Channelopathy-Associated Insensitivity to Pain 24 25 66
Congenital Insensitivity to Pain 24 25 66
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 25 29
Congenital Insensitivity to Pain and Thermal Analgesia 50 56
Congenital Indifference to Pain, Autosomal Recessive 24 29
Hereditary Sensory and Autonomic Neuropathy Type 5 50 56
Insensitivity to Pain, Congenital 54 50
Pain Insensitivity, Congenital 25 42
Asymbolia for Pain 25 66
Hsan Type V 25 52
Cip 25 66
Channelopathy-Associated Congenital Insensitivity to Pain 56
Hereditary Sensory and Autonomic Neuropathy, Type 5 25
Neuropathy, Hereditary Sensory and Autonomic, 5 66
Insensitivity to Pain, Channelopathy-Associated 13
Hereditary Sensory Autonomic Neuropathy, Type 5 69
Congenital Analgesia Autosomal Recessive 66
Hereditary Sensory Neuropathy Type V 66
Congenital Indifference to Pain 25
Channelopathy-Associated Cip 56
Congenital Pain Indifference 25
Hsan2d, Autosomal Recessive 54
Congenital Analgesia 25
Hsn V 66

Characteristics:

Orphanet epidemiological data:

56
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
channelopathy-associated congenital insensitivity to pain
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
insensitivity to pain, congenital:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset

neuropathy, hereditary sensory and autonomic, type v:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

MESH via Orphanet 43 D000699 D009477
UMLS via Orphanet 70 C0002768 C0020075
ICD10 via Orphanet 34 G60.8

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

OMIM : 54 Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain... (243000) more...

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as hsan5, is related to congenital insensitivity to pain with severe intellectual disability and insensitivity to pain, congenital, with anhidrosis, and has symptoms including anosmia, hyposmia and dysautonomia. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Bupivacaine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone and tongue, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Genetics Home Reference : 25 Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia).

NIH Rare Diseases : 50 hereditary sensory and autonomic neuropathy type v (hsan5) is a condition that affects the sensory nerve cells. these cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. hsan5 is caused by changes (mutations) in the ngf gene and is inherited in an autosomal recessive manner. medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury. last updated: 10/27/2015

UniProtKB/Swiss-Prot : 66 Indifference to pain, congenital, autosomal recessive: A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. Neuropathy, hereditary sensory and autonomic, 5: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable.

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type V

Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Ii family:

Neuropathy, Hereditary Sensory and Autonomic, Type V Neuropathy, Hereditary Sensory and Autonomic, Type Vii
Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Vi
Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Viii
Neuropathy, Hereditary Sensory and Autonomic, Type Ic Hereditary Sensory and Autonomic Neuropathy Type 1e
Hereditary Sensory and Autonomic Neuropathy Type Iic

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
id Related Disease Score Top Affiliating Genes
1 congenital insensitivity to pain with severe intellectual disability 12.2
2 insensitivity to pain, congenital, with anhidrosis 12.2
3 congenital insensitivity to pain with hyperhidrosis 12.1
4 congenital insensitivity to pain-hypohidrosis syndrome 12.1
5 critical illness polyneuropathy 11.5
6 neuropathy, hereditary sensory and autonomic, type vii 11.1
7 hereditary sensory neuropathy 11.1
8 neuropathy, hereditary sensory and autonomic, type ia 10.8
9 autonomic neuropathy 10.4
10 neuropathy 10.4
11 hypermobility of coccyx 10.2 NGF SCN10A
12 charcot-marie-tooth disease, axonal, type 2h 10.2 SCN10A SCN11A
13 gall bladder carcinoma in situ 10.2 NGF NTRK1
14 lung occult small cell carcinoma 10.2 NGF NTRK1
15 tinea capitis 10.2 NGF SCN9A
16 deafness, autosomal recessive 102 10.2 KIF1A SCN9A
17 appendix carcinoid tumor 10.2 NGF NTRK1
18 disseminated eosinophilic collagen disease 10.1 NTRK2 SCN10A
19 familial spastic paralysis 10.1 NGF NTRK2
20 apodia, unilateral 10.1 SCN10A SCN11A SCN9A
21 paroxysmal extreme pain disorder 10.1 SCN10A SCN11A SCN9A
22 febrile seizures, familial, 3b 10.1 SCN10A SCN11A SCN9A
23 c5 deficiency 10.1 NGF NTRK2
24 dilated cardiomyopathy 10.1 NGF NTRK1 SCN9A
25 acrocephalopolydactylous dysplasia 10.1 SCN10A SCN11A SCN9A
26 scleroperikeratitis 10.1 NGF NTRK1
27 pallister-hall syndrome 10.1 NGF NTRK1
28 respiratory failure 10.1 NGF NTRK1
29 rh isoimmunization 10.0 NTRK1 NTRK2
30 postmenopausal atrophic vaginitis 10.0 NGF NTRK1 NTRK2
31 cystadenoma 10.0 NGF NTRK1 NTRK2
32 generalized epilepsy with febrile seizures plus 10.0 NGF SCN10A SCN11A SCN9A
33 brain compression 10.0 NGF SCN10A
34 mucolipidosis iv 10.0 SPTLC1 SPTLC2
35 cerebral atrophy 9.9 SCN9A SPTLC1 SPTLC2
36 fissured tongue 9.9 KIF1A NGF NTRK1 SPTLC1
37 hypertrophic osteoarthropathy, primary, autosomal recessive 2 9.8 NTRK1 SPTLC1 SULT2B1
38 carotid body cancer 9.5 KIF1A NGF SCN10A SCN11A SPTLC1 SPTLC2
39 walker-warburg syndrome 9.4 KIF1A NGF NTRK1 NTRK2 SPTLC1 SPTLC2
40 auriculocondylar syndrome 1 8.6 KIF1A NGF NTRK1 NTRK2 PRDM12 SCN10A

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type V

Symptoms by clinical synopsis from OMIM:

243000 608654

Clinical features from OMIM:

608654 243000

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458
2 hyposmia 32 HP:0004409
3 dysautonomia 32 HP:0002459
4 intellectual disability, mild 32 HP:0001256
5 hypohidrosis 32 HP:0000966
6 hyporeflexia 32 HP:0001265
7 anhidrosis 32 HP:0000970
8 episodic fever 32 HP:0001954
9 urinary incontinence 32 HP:0000020
10 self-mutilation 32 HP:0000742
11 pain insensitivity 32 HP:0007021
12 painless fractures due to injury 32 HP:0002661
13 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226
14 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 32 HP:0001862

GenomeRNAi Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V 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 NGF NTRK1 SPTLC1
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 Neuropathy, Hereditary Sensory and Autonomic, Type V:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 KIF1A NGF NTRK1 NTRK2 PRDM12 SCN10A
2 integument MP:0010771 9.5 KIF1A NGF NTRK1 SCN10A SCN11A SCN9A
3 nervous system MP:0003631 9.23 SCN9A SPTLC1 KIF1A NGF NTRK1 NTRK2

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

(show top 50) (show all 105)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2180-92-9, 38396-39-3 2474
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 437-38-7 3345
5
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Codeine Approved, Illicit Phase 4 76-57-3 5284371
8
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
9
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
10
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
11
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2 76631-46-4, 113775-47-6 68602 5311068 56032
12
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
13
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
14
Heroin Approved, Illicit Phase 4 561-27-3 5462328
15 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
16 Anesthetics, Local Phase 4,Phase 3,Phase 2,Phase 1
17 Carticaine Phase 4
18 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
19 Epinephryl borate Phase 4
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Pharmaceutical Solutions Phase 4,Phase 1
22 Racepinephrine Phase 4
23 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
24 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 2
25 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
26 Analgesics, Opioid Phase 4,Phase 3,Phase 2
27 Anesthetics, General Phase 4,Phase 3,Phase 2
28 Anesthetics, Intravenous Phase 4,Phase 3,Phase 2
29 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
31 Antirheumatic Agents Phase 4,Phase 2
32 Cyclooxygenase Inhibitors Phase 4,Phase 2
33 Narcotics Phase 4,Phase 3,Phase 2
34 Antitussive Agents Phase 4
35 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
36 Respiratory System Agents Phase 4
37 Ketorolac Tromethamine Phase 4
38 Adrenergic Agents Phase 4,Phase 3,Phase 2
39 Adrenergic Agonists Phase 4,Phase 3,Phase 2
40 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2
41 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2
42 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2
43 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
44 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3
45 Excitatory Amino Acids Phase 4,Phase 2,Phase 3
46 Coagulants Phase 4
47 Fibrin Tissue Adhesive Phase 4
48 Hemostatics Phase 4
49 Tea Nutraceutical Phase 4
50
Ketamine Approved, Vet_approved Phase 2, Phase 3 6740-88-1 3821

Interventional clinical trials:

(show top 50) (show all 58)
id Name Status NCT ID Phase
1 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Unknown status NCT01536717 Phase 4
2 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4
3 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4
4 Comparison of IV PCA and Wound Infusion After Repair of Pectus Excavatum Completed NCT01908491 Phase 4
5 Sub-Paraspinal Block in Nuss Patients. A Pilot Project Completed NCT02169297 Phase 4
6 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
7 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery Recruiting NCT02552459 Phase 4
8 A Comparison Trial Between PCA and Epidural Analgesia for Pectus Excavatum Repair Recruiting NCT02056301 Phase 4
9 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4
10 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Not yet recruiting NCT02848157 Phase 4
11 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Not yet recruiting NCT02915042 Phase 4
12 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4
13 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4
14 Effects of Additional Fentanyl to Epidural Bupivacaine for Post-Thoracotomy Pain in Neonates Completed NCT00286143 Phase 3
15 Infra-orbital Nerve Block for Post Operative Analgesia in Children Undergoing Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3
16 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3
17 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
18 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3
19 Epidural Analgesia During Labour Recruiting NCT03133091 Phase 3
20 Choosing Opioid Management for Pain and Analyzing Acute Chest Syndrome (ACS) Rates Equally Active, not recruiting NCT01380197 Phase 3
21 THE IMPROVE TRIAL: Improving Pain Management and Outcomes With Various Strategies of Patient-Controlled Analgesia (PCA) Terminated NCT00999245 Phase 3
22 Caudal Versus Intravenous Dexmedetomidine for Supplementation of Caudal Analgesia in Children Completed NCT01701778 Phase 2
23 Association of Different Doses of Clonidine in Caudal Epidural Anesthesia for Hypospadias Surgery Completed NCT02769390 Phase 2
24 Nitrous Oxide Analgesia Vaso-occlusive Crisis Recruiting NCT01891812 Phase 2
25 Hydroxyurea in the Emergency Room to Lessen Pain in Sickle Cell Crisis Recruiting NCT03062501 Phase 2
26 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2
27 Comparison of Patient Controlled Analgesia (PCA) Versus Bolus Narcotic Therapy for the Treatment of Vaso-Occlusive Crisis (VOC) Withdrawn NCT00711698 Phase 2
28 Abciximab (ReoPro) as a Therapeutic Intervention for Sickle Cell Vaso-Occlusive Pain Crisis Withdrawn NCT01932554 Phase 2
29 tDCS Associated With Peripheral Electrical Stimulation for Pain Control in Individuals With Sickle Cell Disease Recruiting NCT02813629 Phase 1
30 The Effect of Paravertebral Block With Dexamethasone on Intraoperative and Postoperative Analgesia in Children Undergoing Surgery for Coarctation of Aorta Active, not recruiting NCT03074773 Phase 1
31 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088
32 SPAIN Chest Wall Deformity Project (Pectus Repair) Unknown status NCT02098681
33 The Management of Postoperative Craniotomy Pain in Pediatric Patients Unknown status NCT01576601
34 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
35 Comparison of Levobupivacaine, Ropivacaine and Bupivacaine in Epidural Anaesthesia Completed NCT02513433
36 Review of Pain Management After Congenital Cardiac Surgery Completed NCT01378663
37 Effect of Preemptive Epidural Analgesia in Labor on Cytokine Production Completed NCT00361712
38 Mental Training and Childbirth Completed NCT00914082
39 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
40 Comparison of Dexamethasone Added to Ropivacaine and Ropivacaine Alone in Caudal Analgesia in Children Undergoing Orchiopexy Completed NCT01604915
41 Pain Management for Pectus Excavatum Repair Completed NCT00413582
42 Assessing Function in Pediatric Patients With Sickle Cell Disease Completed NCT00590148
43 Post Operative Pain Control Using Ropivacaine and the ON-Q System in the Adult Pectus Excavatum Patient Completed NCT01816477
44 Effectiveness of New Analgesic Strategy Compared to the Usal Antalgic Strategy Completed NCT00874172
45 Prediction and Characterization of Acute and Chronic Postoperative Pain Completed NCT01308385
46 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
47 Subcapsular Orchiectomy in Men With Klinefelter Syndrome Completed NCT01750632
48 Early Labour Assessment and Support at Home Completed NCT00225329
49 Perfusion Index and Labor Analgesia Recruiting NCT03107559
50 Painful Channelopathies Study Recruiting NCT02696746

Search NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type V

Cochrane evidence based reviews: pain insensitivity, congenital

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

id Genetic test Affiliating Genes
1 Indifference to Pain, Congenital, Autosomal Recessive 29
2 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 29
3 Congenital Indifference to Pain, Autosomal Recessive 24 SCN9A
4 Hereditary Sensory and Autonomic Neuropathy Type V 24 NGF

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type V

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

39
Bone, Tongue

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type V:

66
id Symbol AA change Variation ID SNP ID
1 NGF p.Arg221Trp VAR_030659 rs11466112
2 SCN9A p.Arg907Gln VAR_064610

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type V:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs121908908 GRCh37 Chromosome 2, 167143072: 167143072
2 SCN9A SCN9A, 1-BP DEL, 2298T deletion Pathogenic
3 SCN9A NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs121908909 GRCh37 Chromosome 2, 167133643: 167133643
4 SCN9A NM_002977.3(SCN9A): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs121908916 GRCh37 Chromosome 2, 167159672: 167159672
5 SCN9A NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter) single nucleotide variant Pathogenic rs121908917 GRCh37 Chromosome 2, 167149864: 167149864
6 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh37 Chromosome 1, 115828756: 115828756
7 NGF NGF, 680C-A AND 2-BP DEL, 681GG deletion Pathogenic
8 SCN9A NM_002977.3(SCN9A): c.3993delGinsTT (p.Leu1331Phefs) indel Pathogenic rs606231279 GRCh37 Chromosome 2, 167085381: 167085381
9 SCN9A NM_002977.3(SCN9A): c.2690G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs794729216 GRCh37 Chromosome 2, 167133644: 167133644

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type V

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type V.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type V

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type V

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 serine C-palmitoyltransferase complex GO:0017059 8.96 SPTLC1 SPTLC2
2 voltage-gated sodium channel complex GO:0001518 8.8 SCN10A SCN11A SCN9A

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.77 SCN10A SCN11A SCN9A
2 negative regulation of neuron apoptotic process GO:0043524 9.74 NGF NTRK1 NTRK2
3 sodium ion transport GO:0006814 9.73 SCN10A SCN11A SCN9A
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 NGF NTRK1 NTRK2
5 sodium ion transmembrane transport GO:0035725 9.69 SCN10A SCN11A SCN9A
6 microtubule-based movement GO:0007018 9.67 KIF1A NGF NTRK1
7 activation of MAPKK activity GO:0000186 9.62 NGF NTRK1
8 sphingolipid biosynthetic process GO:0030148 9.62 SPTLC1 SPTLC2
9 biosynthetic process GO:0009058 9.61 SPTLC1 SPTLC2
10 sphingolipid metabolic process GO:0006665 9.61 SPTLC1 SPTLC2
11 positive regulation of axonogenesis GO:0050772 9.6 NGF NTRK2
12 ceramide biosynthetic process GO:0046513 9.58 SPTLC1 SPTLC2
13 positive regulation of Ras protein signal transduction GO:0046579 9.58 NGF NTRK1
14 neurotrophin TRK receptor signaling pathway GO:0048011 9.55 NGF NTRK1
15 regulation of postsynaptic membrane potential GO:0060078 9.54 SCN10A SCN11A SCN9A
16 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.52 NTRK1 PRDM12
17 sphingosine biosynthetic process GO:0046512 9.48 SPTLC1 SPTLC2
18 sphingomyelin biosynthetic process GO:0006686 9.46 SPTLC1 SPTLC2
19 positive regulation of lipophagy GO:1904504 9.43 SPTLC1 SPTLC2
20 mechanoreceptor differentiation GO:0042490 9.4 NTRK1 NTRK2
21 neuronal action potential GO:0019228 9.33 SCN10A SCN11A SCN9A
22 neurotrophin signaling pathway GO:0038179 9.32 NTRK1 NTRK2
23 sphinganine biosynthetic process GO:0046511 9.26 SPTLC1 SPTLC2
24 membrane depolarization during action potential GO:0086010 9.13 SCN10A SCN11A SCN9A
25 sensory perception of pain GO:0019233 8.92 NTRK1 PRDM12 SCN10A SCN9A

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 NTRK1 NTRK2 PRDM12 SPTLC1 SPTLC2 SULT2B1
2 voltage-gated ion channel activity GO:0005244 9.58 SCN10A SCN11A SCN9A
3 ion channel activity GO:0005216 9.54 SCN10A SCN11A SCN9A
4 serine C-palmitoyltransferase activity GO:0004758 9.32 SPTLC1 SPTLC2
5 neurotrophin binding GO:0043121 9.26 NTRK1 NTRK2
6 neurotrophin receptor activity GO:0005030 9.16 NTRK1 NTRK2
7 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
8 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN11A SCN9A

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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