HSAN5
MCID: NRP037
MIFTS: 58

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 58 54 13
Hsan5 58 12 54 26 60 76
Congenital Insensitivity to Pain 25 54 26 76 38
Hereditary Sensory and Autonomic Neuropathy Type 5 12 54 60 15
Hereditary Sensory and Autonomic Neuropathy Type V 12 54 26 60
Hsan V 58 54 26 76
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 26 30 6
Congenital Insensitivity to Pain and Thermal Analgesia 54 60
Insensitivity to Pain, Congenital 58 54
Congenital Indifference to Pain 26 6
Pain Insensitivity, Congenital 26 45
Hsan Type V 26 56
Channelopathy-Associated Congenital Insensitivity to Pain 54
Indifference to Pain, Congenital, Autosomal Recessive 26
Neuropathy, Sensory and Autonomic, Hereditary, Type V 41
Hereditary Sensory and Autonomic Neuropathy, Type 5 26
Neuropathy, Hereditary Sensory and Autonomic, 5 76
Hereditary Sensory Autonomic Neuropathy, Type 5 74
Channelopathy-Associated Insensitivity to Pain 26
Hereditary Sensory and Autonomic Neuropathies 45
Neuropathy, Sensory and Autonomic, Hereditary 41
Hereditary Sensory Neuropathy Type V 76
Channelopathy-Associated Cip 54
Congenital Pain Indifference 26
Congenital Analgesia 26
Asymbolia for Pain 26
Hsn V 76
Cip 26

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neuropathy, hereditary sensory and autonomic, type v:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070145
OMIM 58 608654
KEGG 38 H00774
NCIt 51 C125386
MESH via Orphanet 46 D000699
ICD10 via Orphanet 35 G60.8
UMLS via Orphanet 75 C0002768 C0020075
Orphanet 60 ORPHA64752
MedGen 43 C0020075

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetics Home Reference : 26 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 bone, tongue and spinal cord, 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 : 54 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 : 76 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 137)
# Related Disease Score Top Affiliating Genes
1 anhidrosis 31.6 NGF NGFR NTRK1
2 insensitivity to pain, congenital, with anhidrosis 31.5 BDNF NAA50 NTRK1
3 hereditary sensory neuropathy 30.4 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 12.5
9 x-linked hereditary sensory and autonomic neuropathy with deafness 12.5
10 hereditary sensory and autonomic neuropathy with deafness and global delay 12.5
11 neuropathy, hereditary sensory and autonomic, type vi 12.5
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 12.4
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 11.6
20 marsili syndrome 11.5
21 deafness, x-linked 5 11.4
22 sptlc1-related hereditary sensory neuropathy 11.4
23 prp systemic amyloidosis 11.4
24 neuropathy, hereditary sensory and autonomic, type viii 11.4
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 joint disorders 10.3
35 arthropathy 10.3
36 sensory peripheral neuropathy 10.3
37 dysautonomia 10.3
38 askin's tumor 10.2 NGF NTRK1
39 prolactin producing pituitary tumor 10.2 NGF NTRK1
40 prurigo nodularis 10.2 NGF NGFR
41 conjunctival nevus 10.2 NGF NTRK1
42 cannabis abuse 10.2 BDNF NGF
43 adult astrocytic tumour 10.2 BDNF NGF
44 causalgia 10.2 NGF NTRK1
45 charcot-marie-tooth disease 10.2
46 tooth disease 10.2
47 ocular cicatricial pemphigoid 10.2 NGF NTRK1
48 paine syndrome 10.2 BDNF NGF
49 olfactory neuroblastoma 10.2 NGFR NTRK1
50 neuropathy 10.1

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

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

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
2 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
3 intellectual disability, mild 60 33 occasional (7.5%) Frequent (79-30%) HP:0001256
4 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
5 anhidrosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0000970
6 abnormality of the gingiva 60 33 frequent (33%) Frequent (79-30%) HP:0000168
7 poor wound healing 60 33 frequent (33%) Frequent (79-30%) HP:0001058
8 pain insensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0007021
9 impaired temperature sensation 60 33 frequent (33%) Frequent (79-30%) HP:0010829
10 painless fractures due to injury 60 33 frequent (33%) Frequent (79-30%) HP:0002661
11 decreased number of small peripheral myelinated nerve fibers 60 33 frequent (33%) Frequent (79-30%) HP:0007249
12 recurrent fever 33 occasional (7.5%) HP:0001954
13 impaired pain sensation 33 HP:0007328
14 osteomyelitis 33 HP:0002754
15 acral ulceration 33 HP:0006121

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 FURIN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 RHOA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 FURIN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 FURIN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.72 RHOA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 FURIN NGF RHOA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 NGF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.72 NGF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 RHOA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 FURIN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 FURIN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.72 RHOA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 NGF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 RHOA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 NGF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 RHOA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.72 FURIN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 FURIN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 RHOA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 NGF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 RHOA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 NGF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 FURIN

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

47
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo

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:

# Genetic test Affiliating Genes
1 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 30 NGF

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

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

42
Bone, Tongue, Spinal Cord, Brain, Eye, Skin, Prostate

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

(show top 50) (show all 257)
# Title Authors Year
1
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. ( 30677517 )
2019
2
Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis. ( 30737035 )
2019
3
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. ( 30774415 )
2019
4
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 )
2019
5
Congenital Insensitivity to Pain: A Misnomer. ( 30716471 )
2019
6
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. ( 29407522 )
2018
7
A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment. ( 29595626 )
2018
8
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
9
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 29770739 )
2018
10
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29971168 )
2018
11
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
12
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 30201336 )
2018
13
Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. ( 30461622 )
2018
14
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. ( 30510952 )
2018
15
Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature. ( 28124176 )
2018
16
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. ( 28471035 )
2018
17
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site. ( 30296891 )
2018
18
Congenital insensitivity to pain in one family. ( 27941533 )
2018
19
Congenital Insensitivity to Pain and Anhydrosis Syndrome. ( 29854651 )
2018
20
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. ( 29949203 )
2018
21
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. ( 29978519 )
2018
22
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
23
Anesthesia Procedure for Congenital Insensitivity to Pain in a Child with Anhidrosis Syndrome: A Rare Case. ( 29142185 )
2017
24
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome? ( 29142767 )
2017
25
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
26
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2017
27
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
28
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
29
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
30
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
31
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
32
Congenital insensitivity to pain: How should anesthesia be managed? ( 29168371 )
2017
33
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
34
Congenital Insensitivity to Pain and Anhidrosis. ( 26848454 )
2016
35
A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis (HSAN) Type IV - A Case Report. ( 27042602 )
2016
36
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
37
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
38
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
39
Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder. ( 27772759 )
2016
40
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
41
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
42
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
43
Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain. ( 27270876 )
2016
44
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. ( 27747863 )
2016
45
Slipped Distal Femoral Epiphysis in Congenital Insensitivity to Pain. ( 27703943 )
2016
46
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. ( 26975306 )
2016
47
Multidisciplinary assessment of congenital insensitivity to pain syndrome. ( 27000762 )
2016
48
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis. ( 25316729 )
2015
49
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2015
50
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

76
# 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
12.79 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
12.58 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 12.08 CFL1 CXCL12 RHOA
20
Show member pathways
12.08 BDNF CXCL12 NGF NGFR NTRK1
21
Show member pathways
12.02 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 8.92 FURIN 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 positive regulation of neuron differentiation GO:0045666 9.65 CXCL12 NGF RHOA
4 positive regulation of cell adhesion GO:0045785 9.64 CXCL12 RHOA
5 activation of MAPKK activity GO:0000186 9.64 NGF NTRK1
6 response to amino acid GO:0043200 9.63 CFL1 RHOA
7 response to radiation GO:0009314 9.63 CXCL12 NTRK1
8 cellular response to amyloid-beta GO:1904646 9.62 NGFR NTRK1
9 regulation of calcium ion transport GO:0051924 9.62 CXCL12 RHOA
10 peripheral nervous system development GO:0007422 9.61 BDNF NGF
11 regulation of neuron differentiation GO:0045664 9.61 BDNF NGF
12 Rho protein signal transduction GO:0007266 9.61 CFL1 NGFR RHOA
13 negative regulation of axonogenesis GO:0050771 9.59 NGFR RHOA
14 positive regulation of Ras protein signal transduction GO:0046579 9.58 NGF NTRK1
15 positive regulation of T cell migration GO:2000406 9.58 CXCL12 RHOA
16 neuron projection morphogenesis GO:0048812 9.58 BDNF NGF RHOA
17 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.57 CXCL12 NTRK1
18 cellular response to chemokine GO:1990869 9.56 CXCL12 RHOA
19 nerve development GO:0021675 9.55 BDNF NGF
20 regulation of actin polymerization or depolymerization GO:0008064 9.54 CXCL12 RHOA
21 axon guidance GO:0007411 9.54 BDNF CXCL12 NTRK1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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