MCID: NRP037
MIFTS: 48

Neuropathy, Hereditary Sensory and Autonomic, Type V

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Gastrointestinal diseases, Metabolic diseases, Ear diseases, Mental 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 V 12 53 25 59
Hsan V 57 53 25 75
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 25 29 6
Hereditary Sensory and Autonomic Neuropathy Type 5 12 53 59
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 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
ICD10 33 G60.8
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 hereditary sensory neuropathy and indifference to pain, congenital, autosomal recessive. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and MAPK signaling pathway. Affiliated tissues include tongue, bone and spinal cord, and related phenotypes are self-mutilation and anhidrosis

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.

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.

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.

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 all 22)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 30.0 NGF NTRK1
2 indifference to pain, congenital, autosomal recessive 12.6
3 insensitivity to pain, congenital, with anhidrosis 12.3
4 congenital insensitivity to pain with severe intellectual disability 12.3
5 critical illness polyneuropathy 11.6
6 congenital insensitivity to pain with hyperhidrosis 11.2
7 neuropathy 10.0
8 askin's tumor 9.7 NGF NTRK1
9 prolactin producing pituitary tumor 9.7 NGF NTRK1
10 conjunctival nevus 9.7 NGF NTRK1
11 sweat gland disease 9.7 NGF NTRK1
12 anhidrosis 9.7 NGF NTRK1
13 ocular cicatricial pemphigoid 9.6 NGF NTRK1
14 cerebral cavernous malformations 2 9.6 NGF NTRK1
15 peripheral nervous system neoplasm 9.6 NGF NTRK1
16 autonomic nervous system neoplasm 9.6 NGF NTRK1
17 autonomic neuropathy 9.5 NGF NTRK1
18 nervous system cancer 9.5 NGF NTRK1
19 diabetic neuropathy 9.4 NGF NTRK1
20 pheochromocytoma 9.3 NGF NTRK1
21 medulloblastoma 9.2 NGF NTRK1
22 neuroblastoma 9.0 NGF NTRK1

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

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

Skeletal:
painless fractures due to injury

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 self-mutilation 32 HP:0000742
2 anhidrosis 32 occasional (7.5%) HP:0000970
3 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226
4 intellectual disability, mild 32 occasional (7.5%) HP:0001256
5 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 32 HP:0001862
6 episodic fever 32 occasional (7.5%) HP:0001954
7 painless fractures due to injury 32 HP:0002661
8 pain insensitivity 32 HP:0007021

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 NGF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 NTRK1 NGF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 NGF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 NGF NTRK1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 NTRK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 NGF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 NTRK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 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 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, Spinal Cord, Brain, Skin, Neutrophil

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

(show top 50) (show all 149)
# 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
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-LefA"vre Syndrome? ( 29142767 )
2017
7
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
8
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
9
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
10
Anesthesia Procedure for Congenital Insensitivity to Pain in a Child with Anhidrosis Syndrome: A Rare Case. ( 29142185 )
2017
11
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
12
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
13
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
14
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. ( 27747863 )
2016
15
A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis (HSAN) Type IV - A Case Report. ( 27042602 )
2016
16
Congenital Insensitivity to Pain and Anhidrosis. ( 26848454 )
2016
17
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
18
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. ( 26975306 )
2016
19
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2016
20
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
21
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
22
Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder. ( 27772759 )
2016
23
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
24
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
25
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
26
Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management. ( 26457210 )
2015
27
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
28
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
29
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
30
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
31
Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. ( 26579324 )
2015
32
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
33
Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. ( 24953503 )
2014
34
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2014
35
Congenital insensitivity to pain and anhidrosis syndrome: two cases involving a brother and sister. ( 25421205 )
2014
36
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis. ( 25316729 )
2014
37
A case of congenital insensitivity to pain with anhidrosis. ( 26078659 )
2014
38
[Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report]. ( 25192535 )
2014
39
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. ( 24290131 )
2013
40
Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma. ( 22957891 )
2013
41
Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient. ( 22422007 )
2013
42
Congenital insensitivity to pain with anhidrosis in an Iranian patient. ( 25337332 )
2013
43
Severe complications in wound healing and fracture treatment in two brothers with congenital insensitivity to pain with anhidrosis. ( 22814739 )
2013
44
360A^ fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis. ( 24157171 )
2013
45
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. ( 23129781 )
2013
46
[Congenital insensitivity to pain: clinical and neurophysiological study in three sisters of a Moroccan family]. ( 24094759 )
2013
47
Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA). ( 22858419 )
2013
48
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
49
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis. ( 23799134 )
2013
50
Morbidity characteristics of patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 23744299 )
2013

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 343)
# Gene Variation Type Significance SNP ID Assembly Location
1 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh37 Chromosome 1, 115828756: 115828756
2 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh38 Chromosome 1, 115286135: 115286135
3 NGF NGF, 680C-A AND 2-BP DEL, 681GG deletion Pathogenic
4 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
5 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
6 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
7 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
8 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
9 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
10 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
11 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
12 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
13 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
14 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
15 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
16 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
17 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
18 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
19 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
20 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
21 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
22 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
23 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
24 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
25 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh38 Chromosome 2, 166238211: 166238211
26 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
27 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
28 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
29 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
30 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
31 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
32 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh37 Chromosome 2, 167055438: 167055438
33 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh38 Chromosome 2, 166198928: 166198928
34 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh37 Chromosome 2, 167134706: 167134706
35 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh38 Chromosome 2, 166278196: 166278196
36 NGF NM_002506.2(NGF): c.284G> A (p.Arg95His) single nucleotide variant Conflicting interpretations of pathogenicity rs150136942 GRCh37 Chromosome 1, 115829133: 115829133
37 NGF NM_002506.2(NGF): c.284G> A (p.Arg95His) single nucleotide variant Conflicting interpretations of pathogenicity rs150136942 GRCh38 Chromosome 1, 115286512: 115286512
38 NGF NM_002506.2(NGF): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs138175552 GRCh38 Chromosome 1, 115286549: 115286549
39 NGF NM_002506.2(NGF): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs138175552 GRCh37 Chromosome 1, 115829170: 115829170
40 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh37 Chromosome 2, 167163549: 167163549
41 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh38 Chromosome 2, 166307039: 166307039
42 SCN9A NM_002977.3(SCN9A): c.4366-14G> T single nucleotide variant Likely benign rs112927502 GRCh38 Chromosome 2, 166204478: 166204478
43 SCN9A NM_002977.3(SCN9A): c.4366-14G> T single nucleotide variant Likely benign rs112927502 GRCh37 Chromosome 2, 167060988: 167060988
44 SCN9A NM_002977.3(SCN9A): c.2157G> C (p.Trp719Cys) single nucleotide variant Benign/Likely benign rs202055175 GRCh37 Chromosome 2, 167137020: 167137020
45 SCN9A NM_002977.3(SCN9A): c.2157G> C (p.Trp719Cys) single nucleotide variant Benign/Likely benign rs202055175 GRCh38 Chromosome 2, 166280510: 166280510
46 SCN9A NM_002977.3(SCN9A): c.4282G> A (p.Val1428Ile) single nucleotide variant Likely benign rs149346064 GRCh37 Chromosome 2, 167083160: 167083160
47 SCN9A NM_002977.3(SCN9A): c.4282G> A (p.Val1428Ile) single nucleotide variant Likely benign rs149346064 GRCh38 Chromosome 2, 166226650: 166226650
48 SCN9A NM_002977.3(SCN9A): c.3431T> A (p.Phe1144Tyr) single nucleotide variant Uncertain significance rs750839038 GRCh37 Chromosome 2, 167108283: 167108283
49 SCN9A NM_002977.3(SCN9A): c.3431T> A (p.Phe1144Tyr) single nucleotide variant Uncertain significance rs750839038 GRCh38 Chromosome 2, 166251773: 166251773
50 SCN9A NM_002977.3(SCN9A): c.1464C> T (p.Leu488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200682458 GRCh37 Chromosome 2, 167142984: 167142984

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 NGF NTRK1
2 12.18 NGF NTRK1
3
Show member pathways
12.14 NGF NTRK1
4
Show member pathways
12.11 NGF NTRK1
5
Show member pathways
12.04 NGF NTRK1
6
Show member pathways
11.99 NGF NTRK1
7 11.94 NGF NTRK1
8
Show member pathways
11.55 NGF NTRK1
9 11.48 NGF NTRK1
10 11.32 NGF NTRK1
11
Show member pathways
11.05 NGF NTRK1
12
Show member pathways
10.74 NGF NTRK1
13
Show member pathways
9.66 NGF NTRK1

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 endosome GO:0005768 9.16 NGF NTRK1
2 dendrite GO:0030425 8.96 NGF NTRK1
3 axon GO:0030424 8.62 NGF NTRK1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.48 NGF NTRK1
2 negative regulation of cell proliferation GO:0008285 9.46 NGF NTRK1
3 negative regulation of neuron apoptotic process GO:0043524 9.43 NGF NTRK1
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.4 NGF NTRK1
5 microtubule-based movement GO:0007018 9.37 NGF NTRK1
6 activation of MAPKK activity GO:0000186 9.32 NGF NTRK1
7 phosphatidylinositol-mediated signaling GO:0048015 9.26 NGF NTRK1
8 positive regulation of Ras protein signal transduction GO:0046579 9.16 NGF NTRK1
9 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 NGF NTRK1
10 nerve growth factor signaling pathway GO:0038180 8.62 NGF 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
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