HSAN5
MCID: NRP037
MIFTS: 62

Neuropathy, Hereditary Sensory and Autonomic, Type V (HSAN5)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

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

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type V:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type V 57 53 13
Hsan5 57 12 53 25 59 75
Congenital Insensitivity to Pain 24 53 25 75 37
Hereditary Sensory and Autonomic Neuropathy Type 5 12 53 59 15
Hereditary Sensory and Autonomic Neuropathy Type V 12 53 25 59
Hsan V 57 53 25 75
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 25 29 6
Congenital Insensitivity to Pain and Thermal Analgesia 53 59
Insensitivity to Pain, Congenital 57 53
Congenital Indifference to Pain 25 6
Pain Insensitivity, Congenital 25 44
Hsan Type V 25 55
Channelopathy-Associated Congenital Insensitivity to Pain 53
Indifference to Pain, Congenital, Autosomal Recessive 25
Neuropathy, Sensory and Autonomic, Hereditary, Type V 40
Hereditary Sensory and Autonomic Neuropathy, Type 5 25
Neuropathy, Hereditary Sensory and Autonomic, 5 75
Hereditary Sensory Autonomic Neuropathy, Type 5 73
Channelopathy-Associated Insensitivity to Pain 25
Hereditary Sensory and Autonomic Neuropathies 44
Neuropathy, Sensory and Autonomic, Hereditary 40
Hereditary Sensory Neuropathy Type V 75
Channelopathy-Associated Cip 53
Congenital Pain Indifference 25
Congenital Analgesia 25
Asymbolia for Pain 25
Hsn V 75
Cip 25

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'


HPO:

32
neuropathy, hereditary sensory and autonomic, type v:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608654
Disease Ontology 12 DOID:0070145
NCIt 50 C125386
Orphanet 59 ORPHA64752
MESH via Orphanet 45 D000699
UMLS via Orphanet 74 C0002768 C0020075
ICD10 via Orphanet 34 G60.8
MedGen 42 C0020075
KEGG 37 H00774

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

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).

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as hsan5, is related to anhidrosis and insensitivity to pain, congenital, with anhidrosis. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. Affiliated tissues include tongue, bone and brain, and related phenotypes are malar flattening and abnormality of the dentition

Disease Ontology : 12 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has material basis in homozygous mutation in the NGF gene on chromosome 1p13.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 608654
GeneReviews: NBK481553

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

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

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

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

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 anhidrosis 31.5 NGF NGFR NTRK1
2 insensitivity to pain, congenital, with anhidrosis 31.4 BDNF NAA50 NTRK1
3 hereditary sensory neuropathy 30.3 NGF NTRK1
4 hereditary sensory and autonomic neuropathy type 1 12.9
5 indifference to pain, congenital, autosomal recessive 12.8
6 neuropathy, hereditary sensory and autonomic, type iia 12.6
7 congenital insensitivity to pain with severe intellectual disability 12.5
8 neuropathy, hereditary sensory and autonomic, type iii 12.4
9 neuropathy, hereditary sensory and autonomic, type vi 12.4
10 x-linked hereditary sensory and autonomic neuropathy with deafness 12.4
11 hereditary sensory and autonomic neuropathy with deafness and global delay 12.4
12 neuropathy, hereditary sensory and autonomic, type ic 12.4
13 congenital insensitivity to pain with hyperhidrosis 12.4
14 neuropathy, hereditary sensory, type ie 12.3
15 neuropathy, hereditary sensory and autonomic, type iib 12.3
16 neuropathy, hereditary sensory and autonomic, type ia 12.2
17 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 12.1
18 critical illness polyneuropathy 11.8
19 spastic paraplegia 49, autosomal recessive 11.5
20 marsili syndrome 11.5
21 deafness, x-linked 5 11.4
22 dnmt1-related dementia, deafness, and sensory neuropathy 11.4
23 prp systemic amyloidosis 11.4
24 neuropathy, hereditary sensory and autonomic, type viii 11.3
25 neuropathy, hereditary sensory, type id 11.3
26 neuropathy, hereditary sensory, type iic 11.3
27 neuropathy, hereditary sensory, type if 11.3
28 ramos arroyo clark syndrome 11.3
29 neuropathy - hereditary 11.3
30 familial syringomyelia 11.3
31 neuropathy, hereditary sensory and autonomic, type vii 11.2
32 anosmia, isolated congenital 11.1
33 paroxysmal extreme pain disorder 11.1
34 arthropathy 10.3
35 sensory peripheral neuropathy 10.3
36 dysautonomia 10.3
37 charcot-marie-tooth disease 10.2
38 tooth disease 10.2
39 askin's tumor 10.2 NGF NTRK1
40 prurigo nodularis 10.1 NGF NGFR
41 prolactin producing pituitary tumor 10.1 NGF NTRK1
42 conjunctival nevus 10.1 NGF NTRK1
43 autonomic neuropathy 10.1
44 neuropathy 10.1
45 causalgia 10.1 NGF NTRK1
46 cannabis abuse 10.1 BDNF NGF
47 ocular cicatricial pemphigoid 10.1 NGF NTRK1
48 olfactory neuroblastoma 10.1 NGFR NTRK1
49 adult astrocytic tumour 10.1 BDNF NGF
50 paine syndrome 10.1 BDNF NGF

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 via clinical synopsis from OMIM:

57
Skeletal:
painless fractures due to injury

Head And Neck Mouth:
accidental injury and ulceration of the lips and tongue due to decreased sensation

Skeletal Feet:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Skin Nails Hair Skin:
acral ulcers
anhidrosis, patchy, in some patients

Metabolic Features:
increased body temperature, episodic, in some patients

Neurologic Central Nervous System:
mental retardation, mild (1 family)

Skeletal Hands:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Immunology:
increased susceptibility to severe and frequent infections with staphylococcus aureus

Neurologic Peripheral Nervous System:
pain insensitivity, distal
temperature insensitivity, distal, in some patients
normal large myelinated fiber sensory modalities
normal reflexes
selective decrease in small myelinated fibers seen on sural nerve biopsy
more

Clinical features from OMIM:

608654

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

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
3 intellectual disability, mild 59 32 occasional (7.5%) Frequent (79-30%) HP:0001256
4 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
5 anhidrosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0000970
6 abnormality of the gingiva 59 32 frequent (33%) Frequent (79-30%) HP:0000168
7 poor wound healing 59 32 frequent (33%) Frequent (79-30%) HP:0001058
8 pain insensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0007021
9 impaired temperature sensation 59 32 frequent (33%) Frequent (79-30%) HP:0010829
10 painless fractures due to injury 59 32 frequent (33%) Frequent (79-30%) HP:0002661
11 decreased number of small peripheral myelinated nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0007249
12 impaired pain sensation 32 HP:0007328
13 osteomyelitis 32 HP:0002754
14 episodic fever 32 occasional (7.5%) HP:0001954
15 acral ulceration 32 HP:0006121

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 FURIN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.7 FURIN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.7 FURIN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.7 RHOA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 FURIN NGF RHOA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 NGF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 NGF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 RHOA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 FURIN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 FURIN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.7 RHOA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 NGF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.7 RHOA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 NGF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.7 RHOA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 FURIN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 FURIN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 RHOA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 NGF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 RHOA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 NGF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.7 FURIN

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.92 BDNF CFL1 CXCL12 FURIN NGF NGFR
2 nervous system MP:0003631 9.86 BDNF CFL1 CXCL12 FURIN NGF NGFR
3 integument MP:0010771 9.85 BDNF CFL1 FURIN NGF NGFR NTRK1
4 normal MP:0002873 9.56 BDNF CFL1 CXCL12 FURIN NGF NGFR
5 no phenotypic analysis MP:0003012 9.55 BDNF CFL1 CXCL12 NGF NTRK1
6 vision/eye MP:0005391 9.02 BDNF CFL1 NGF NGFR NTRK1

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 29 NGF

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

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

41
Tongue, Bone, Brain, Spinal Cord, Skin, Eye, Kidney

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

(show top 50) (show all 248)
# Title Authors Year
1
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29971168 )
2018
2
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
3
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 29770739 )
2018
4
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. ( 29407522 )
2018
5
A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment. ( 29595626 )
2018
6
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. ( 30075136 )
2018
7
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 30201336 )
2018
8
Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. ( 30461622 )
2018
9
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. ( 30510952 )
2018
10
Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature. ( 28124176 )
2018
11
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. ( 28471035 )
2018
12
Congenital insensitivity to pain in one family. ( 27941533 )
2018
13
Congenital Insensitivity to Pain and Anhydrosis Syndrome. ( 29854651 )
2018
14
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. ( 29949203 )
2018
15
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. ( 29978519 )
2018
16
Response to: Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. ( 30339713 )
2018
17
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-LefA"vre Syndrome? ( 29142767 )
2017
18
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
19
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
20
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
21
Anesthesia Procedure for Congenital Insensitivity to Pain in a Child with Anhidrosis Syndrome: A Rare Case. ( 29142185 )
2017
22
Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis. ( 28345382 )
2017
23
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
24
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
25
Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. ( 28940190 )
2017
26
Congenital insensitivity to pain: How should anesthesia be managed? ( 29168371 )
2017
27
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. ( 27747863 )
2016
28
A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis (HSAN) Type IV - A Case Report. ( 27042602 )
2016
29
Congenital Insensitivity to Pain and Anhidrosis. ( 26848454 )
2016
30
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
31
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. ( 26975306 )
2016
32
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2016
33
Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation and mutation-dependent neurodegeneration by dysfunction of the autophagic flux. ( 27551041 )
2016
34
Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9. ( 26746779 )
2016
35
Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder. ( 27772759 )
2016
36
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
37
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
38
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family. ( 27772781 )
2016
39
Multidisciplinary assessment of congenital insensitivity to pain syndrome. ( 27000762 )
2016
40
Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain. ( 27270876 )
2016
41
Slipped Distal Femoral Epiphysis in Congenital Insensitivity to Pain. ( 27703943 )
2016
42
Congenital insensitivity to pain and anhydrosis due to a rare mutation and that is complicated by inflammatory bowel disease and amyloidosis: a case report. ( 27761255 )
2016
43
Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management. ( 26457210 )
2015
44
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
45
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
46
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
47
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
48
Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. ( 26579324 )
2015
49
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
50
SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient. ( 26292973 )
2015

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

75
# Symbol AA change Variation ID SNP ID
1 NGF p.Arg221Trp VAR_030659 rs11466112

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

6 (show top 50) (show all 395)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
2 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
3 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh37 Chromosome 1, 115828756: 115828756
4 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh38 Chromosome 1, 115286135: 115286135
5 NGF NGF, 680C-A AND 2-BP DEL, 681GG deletion Pathogenic
6 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
7 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
8 SCN9A NM_002977.3(SCN9A): c.2794A> C (p.Met932Leu) single nucleotide variant Benign/Likely benign rs12478318 GRCh37 Chromosome 2, 167133540: 167133540
9 SCN9A NM_002977.3(SCN9A): c.2794A> C (p.Met932Leu) single nucleotide variant Benign/Likely benign rs12478318 GRCh38 Chromosome 2, 166277030: 166277030
10 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
11 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
12 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh37 Chromosome 2, 167055393: 167055393
13 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh38 Chromosome 2, 166198883: 166198883
14 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh37 Chromosome 2, 167145142: 167145142
15 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh38 Chromosome 2, 166288632: 166288632
16 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh37 Chromosome 2, 167145106: 167145106
17 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh38 Chromosome 2, 166288596: 166288596
18 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh37 Chromosome 2, 167144995: 167144995
19 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh38 Chromosome 2, 166288485: 166288485
20 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh37 Chromosome 2, 167144974: 167144974
21 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh38 Chromosome 2, 166288464: 166288464
22 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh37 Chromosome 2, 167142979: 167142979
23 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh38 Chromosome 2, 166286469: 166286469
24 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh37 Chromosome 2, 167168093: 167168093
25 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh38 Chromosome 2, 166311583: 166311583
26 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh37 Chromosome 2, 167129258: 167129258
27 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh38 Chromosome 2, 166272748: 166272748
28 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh37 Chromosome 2, 167108385: 167108385
29 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh38 Chromosome 2, 166251875: 166251875
30 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh37 Chromosome 2, 167094730: 167094730
31 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh38 Chromosome 2, 166238220: 166238220
32 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh37 Chromosome 2, 167094638: 167094638
33 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh38 Chromosome 2, 166238128: 166238128
34 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh37 Chromosome 2, 167089976: 167089976
35 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh38 Chromosome 2, 166233466: 166233466
36 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh37 Chromosome 2, 167089980: 167089980
37 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh38 Chromosome 2, 166233470: 166233470
38 SCN9A NM_002977.3(SCN9A): c.444A> G (p.Pro148=) single nucleotide variant Benign rs9646771 GRCh37 Chromosome 2, 167163043: 167163043
39 SCN9A NM_002977.3(SCN9A): c.444A> G (p.Pro148=) single nucleotide variant Benign rs9646771 GRCh38 Chromosome 2, 166306533: 166306533
40 SCN9A NM_002977.3(SCN9A): c.4779G> T (p.Val1593=) single nucleotide variant Benign rs149207258 GRCh37 Chromosome 2, 167056337: 167056337
41 SCN9A NM_002977.3(SCN9A): c.4779G> T (p.Val1593=) single nucleotide variant Benign rs149207258 GRCh38 Chromosome 2, 166199827: 166199827
42 SCN9A NM_002977.3(SCN9A): c.688+13T> C single nucleotide variant Benign rs74449889 GRCh37 Chromosome 2, 167160735: 167160735
43 SCN9A NM_002977.3(SCN9A): c.688+13T> C single nucleotide variant Benign rs74449889 GRCh38 Chromosome 2, 166304225: 166304225
44 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
45 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
46 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
47 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
48 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
49 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
50 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119

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

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 BDNF CFL1 CXCL12 NGF NGFR NTRK1
2
Show member pathways
13.62 BDNF CFL1 CXCL12 NGF NGFR NTRK1
3
Show member pathways
13.49 BDNF CXCL12 NGF NGFR NTRK1 RHOA
4
Show member pathways
13.35 BDNF CXCL12 NGF NGFR NTRK1 RHOA
5
Show member pathways
13.32 BDNF CXCL12 NGF NGFR NTRK1 RHOA
6
Show member pathways
13.22 BDNF CXCL12 NGF NGFR NTRK1 RHOA
7
Show member pathways
13.14 BDNF CXCL12 NGF NGFR NTRK1 RHOA
8
Show member pathways
13.04 BDNF CFL1 CXCL12 NGF NGFR NTRK1
9
Show member pathways
12.88 BDNF CXCL12 NGF NGFR NTRK1 RHOA
10
Show member pathways
12.85 BDNF CXCL12 NGF NGFR NTRK1 RHOA
11
Show member pathways
12.8 BDNF NGF NGFR NTRK1
12 12.61 BDNF NGF NGFR NTRK1
13
Show member pathways
12.6 BDNF NGF NGFR NTRK1 RHOA
14
Show member pathways
12.56 BDNF NGF NGFR NTRK1 RHOA
15
Show member pathways
12.54 BDNF CXCL12 NGF NGFR
16 12.38 NGF NGFR NTRK1
17
Show member pathways
12.36 BDNF CFL1 NGF NGFR NTRK1 RHOA
18
Show member pathways
12.14 BDNF CFL1 CXCL12 NGF NTRK1 RHOA
19
Show member pathways
12.08 BDNF CXCL12 NGF NGFR NTRK1
20 12.06 CFL1 CXCL12 RHOA
21
Show member pathways
12.03 NGF NGFR NTRK1 RHOA
22
Show member pathways
11.93 BDNF CXCL12 NGF NGFR RHOA
23 11.88 BDNF NGFR RHOA
24 11.81 BDNF CFL1 NGF NGFR NTRK1
25 11.54 BDNF CXCL12 NGF NTRK1 RHOA
26 11.4 BDNF NGF NTRK1
27
Show member pathways
11.37 BDNF FURIN NGF NGFR RHOA
28 11.33 NGFR RHOA
29 11.28 CFL1 RHOA
30 11.28 CFL1 RHOA
31 11.17 BDNF CFL1 NGF NGFR NTRK1 RHOA
32 11.16 NGF NGFR
33 11.14 CXCL12 RHOA
34
Show member pathways
11.14 BDNF NGF NGFR NTRK1 RHOA
35 10.78 BDNF CFL1 CXCL12 NGF NTRK1 RHOA
36
Show member pathways
10.64 NGF NTRK1
37
Show member pathways
10.28 FURIN NGF

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 BDNF CFL1 CXCL12 FURIN NGF
2 axon GO:0030424 9.26 BDNF NGF NTRK1 RHOA
3 endosome GO:0005768 9.02 FURIN NGF NGFR NTRK1 RHOA

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.9 CFL1 NGF NGFR NTRK1
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 BDNF NGF NTRK1
3 axon guidance GO:0007411 9.67 BDNF CXCL12 NGFR NTRK1
4 positive regulation of neuron differentiation GO:0045666 9.65 CXCL12 NGF RHOA
5 positive regulation of cell adhesion GO:0045785 9.64 CXCL12 RHOA
6 activation of MAPKK activity GO:0000186 9.64 NGF NTRK1
7 response to amino acid GO:0043200 9.63 CFL1 RHOA
8 response to radiation GO:0009314 9.63 CXCL12 NTRK1
9 cellular response to amyloid-beta GO:1904646 9.62 NGFR NTRK1
10 regulation of calcium ion transport GO:0051924 9.62 CXCL12 RHOA
11 peripheral nervous system development GO:0007422 9.61 BDNF NGF
12 regulation of neuron differentiation GO:0045664 9.61 BDNF NGF
13 Rho protein signal transduction GO:0007266 9.61 CFL1 NGFR RHOA
14 negative regulation of axonogenesis GO:0050771 9.59 NGFR RHOA
15 positive regulation of Ras protein signal transduction GO:0046579 9.58 NGF NTRK1
16 positive regulation of T cell migration GO:2000406 9.58 CXCL12 RHOA
17 neuron projection morphogenesis GO:0048812 9.58 BDNF NGF RHOA
18 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.57 CXCL12 NTRK1
19 cellular response to chemokine GO:1990869 9.56 CXCL12 RHOA
20 nerve development GO:0021675 9.55 BDNF NGF
21 regulation of actin polymerization or depolymerization GO:0008064 9.54 CXCL12 RHOA
22 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.52 NGF NGFR
23 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.51 CXCL12 NTRK1
24 phosphatidylinositol-mediated signaling GO:0048015 9.5 NGF NTRK1 RHOA
25 positive regulation of collateral sprouting GO:0048672 9.46 BDNF NGF
26 negative regulation of neuron apoptotic process GO:0043524 9.46 BDNF NGF NTRK1 RHOA
27 positive regulation of axonogenesis GO:0050772 9.43 NGF NGFR RHOA
28 nerve growth factor signaling pathway GO:0038180 9.13 BDNF NGF NTRK1
29 neurotrophin TRK receptor signaling pathway GO:0048011 8.92 BDNF NGF NGFR NTRK1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 BDNF CXCL12 NGF
2 neurotrophin binding GO:0043121 8.96 NGFR NTRK1
3 nerve growth factor binding GO:0048406 8.8 FURIN NGFR NTRK1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....