HSAN5
MCID: NRP037
MIFTS: 56

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

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste 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 20 13
Hsan5 57 12 20 43 58 72
Congenital Insensitivity to Pain 25 20 43 72 36
Hereditary Sensory and Autonomic Neuropathy Type 5 12 20 58 15
Hereditary Sensory and Autonomic Neuropathy Type V 12 20 43 58
Hsan V 57 20 43 72
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 43 29 6
Congenital Insensitivity to Pain and Thermal Analgesia 20 58
Insensitivity to Pain, Congenital 57 20
Congenital Indifference to Pain 43 6
Pain Insensitivity, Congenital 43 44
Hsan Type V 43 54
Channelopathy-Associated Congenital Insensitivity to Pain 20
Indifference to Pain, Congenital, Autosomal Recessive 43
Neuropathy, Sensory and Autonomic, Hereditary, Type V 39
Hereditary Sensory and Autonomic Neuropathy, Type 5 43
Neuropathy, Hereditary Sensory and Autonomic, 5 72
Hereditary Sensory Autonomic Neuropathy, Type 5 70
Channelopathy-Associated Insensitivity to Pain 43
Hereditary Sensory and Autonomic Neuropathies 44
Hereditary Sensory Neuropathy Type V 72
Channelopathy-Associated Cip 20
Congenital Pain Indifference 43
Congenital Analgesia 43
Asymbolia for Pain 43
Hsn V 72
Cip 43

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neuropathy, hereditary sensory and autonomic, type v:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070145
OMIM® 57 608654
OMIM Phenotypic Series 57 PS162400
KEGG 36 H00774
NCIt 50 C156360
SNOMED-CT 67 128206006 403605007
MESH via Orphanet 45 D000699
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 71 C0002768 C0020075
Orphanet 58 ORPHA64752
MedGen 41 C0020075
UMLS 70 C0002768 C0020075

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

MedlinePlus Genetics : 43 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).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.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as hsan5, is related to insensitivity to pain, congenital, with anhidrosis and neuropathy, hereditary sensory and autonomic, type viii. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Ras signaling pathway and Development HGF signaling pathway. The drugs Serine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include tongue, spinal cord and eye, and related phenotypes are abnormality of the dentition and intellectual disability, mild

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.

GARD : 20 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.

KEGG : 36 Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures, lip- and tongue-biting, and they do not experience visceral pain. Additionally, patients with Nav1.7-related CIP do not show apparent sympathetic dysfunction and have a normal axon reflex response to histamine. Homozygous and compound null mutations in SCN9A are predicted to truncate the channel protein, resulting in loss-of-function mutations in Nav1.7 and the complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 608654 PS162400
GeneReviews: NBK481553

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

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
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
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

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 265)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 32.7 NTRK1 BDNF
2 neuropathy, hereditary sensory and autonomic, type viii 32.1 SCN11A RETREG1 NTRK1 NGF
3 neurogenic arthropathy 30.8 SPTLC1 NTRK1 NGF
4 tooth disease 30.5 SPTLC1 SCN11A NTRK1 NGF
5 paine syndrome 30.5 SCN11A NGF BDNF
6 anhidrosis 30.2 NTRK1 NGFR NGF
7 neuropathy, hereditary sensory and autonomic, type ia 30.2 WNK1 SPTLC1 ELP1
8 charcot-marie-tooth disease, axonal, type 2b 29.8 SPTLC1 RILP
9 neuropathy, hereditary sensory and autonomic, type iia 29.6 WNK1 SPTLC1 RETREG1 NTRK1 NGF KIF1A
10 peripheral nervous system disease 29.4 SPTLC1 SCN11A NTRK1 NGFR NGF ELP1
11 sensory peripheral neuropathy 29.3 SPTLC1 SCN11A RETREG1 NTRK1 NGF BDNF
12 neuropathy, hereditary sensory and autonomic, type iii 29.3 SPTLC1 RETREG1 NTRK1 NGF ELP1 BDNF
13 hereditary sensory neuropathy 28.9 WNK1 SPTLC1 RETREG1 NTRK1 NGF KIF1A
14 charcot-marie-tooth disease 28.8 WNK1 SPTLC1 SCN11A RILP RETREG1 NTRK1
15 autonomic neuropathy 28.8 WNK1 SPTLC1 SCN11A RETREG1 NTRK1 NGF
16 neuropathy 28.2 WNK1 SPTLC1 SCN11A RETREG1 NTRK1 NGF-AS1
17 indifference to pain, congenital, autosomal recessive 11.9
18 congenital insensitivity to pain with severe intellectual disability 11.6
19 marsili syndrome 11.5
20 congenital insensitivity to pain with hyperhidrosis 11.3
21 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.3
22 critical illness polyneuropathy 11.3
23 paroxysmal extreme pain disorder 11.2
24 anosmia, isolated congenital 11.1
25 neuropathy, hereditary sensory and autonomic, type vii 11.1
26 osteomyelitis 10.7
27 arthropathy 10.6
28 alacrima, achalasia, and mental retardation syndrome 10.5
29 avascular necrosis 10.4
30 keratitis, hereditary 10.3
31 generalized epilepsy with febrile seizures plus, type 7 10.3
32 pain agnosia 10.3
33 generalized epilepsy with febrile seizures plus 10.3
34 keratosis 10.3
35 hypotonia 10.3
36 prurigo nodularis 10.3 NGFR NGF
37 causalgia 10.2 SCN11A NGF
38 femoral cancer 10.2 NTRK1 NGF
39 acroosteolysis 10.2
40 cardiac arrest 10.2
41 dental caries 10.2
42 erythromelalgia 10.2
43 dysautonomia 10.2
44 neurotrophic keratopathy 10.2
45 autosomal recessive disease 10.2
46 autonomic dysfunction 10.2
47 chronic pain 10.2
48 retinoblastoma 10.2
49 adrenal gland pheochromocytoma 10.2 NGF BDNF
50 myofascial pain syndrome 10.2 NGF BDNF

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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
2 intellectual disability, mild 58 31 occasional (7.5%) Frequent (79-30%) HP:0001256
3 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
4 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
5 anhidrosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0000970
6 pain insensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0007021
7 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
8 painless fractures due to injury 58 31 frequent (33%) Frequent (79-30%) HP:0002661
9 poor wound healing 58 31 frequent (33%) Frequent (79-30%) HP:0001058
10 abnormality of the gingiva 58 31 frequent (33%) Frequent (79-30%) HP:0000168
11 decreased number of small peripheral myelinated nerve fibers 58 31 frequent (33%) Frequent (79-30%) HP:0007249
12 recurrent fever 31 occasional (7.5%) HP:0001954
13 impaired pain sensation 31 HP:0007328
14 osteomyelitis 31 HP:0002754
15 acral ulceration 31 HP:0006121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteomyelitis
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 ANKFY1 BDNF ELP1 KIF1A NGF NGFR
2 integument MP:0010771 9.61 BDNF ELP1 KIF1A NGF NGFR NTRK1
3 nervous system MP:0003631 9.44 ANKFY1 BDNF ELP1 KIF1A NGF NGFR

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

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
2
Ropivacaine Approved 84057-95-4 71273 175805
3
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
4
Levobupivacaine Approved, Investigational 27262-47-1 92253
5 Endorphins
6 Neurotransmitter Agents
7 Anesthetics
8 Anesthetics, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
2 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
3 The Relationship Between Saliva β-endorphins Levels, Sensitivity and Tolerance to Cold Pain and Perception of Pain in Oral Surgery Procedures in Adult Patients Unknown status NCT03164161
4 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Completed NCT02876939
5 Comparative Evaluation of Newer Congeners i.e. Levobupivacaine and Ropivacaine With Bupivacaine, in Lumbar Epidural Anaesthesia for Hip Surgeries Completed NCT02513433 Bupivacaine;Levobupivacaine;Ropivacaine
6 Painful Channelopathies Study Recruiting NCT02696746
7 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Natural History of Familial Dysautonomia Recruiting NCT03920774

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:

40
Tongue, Spinal Cord, Eye, Bone, Kidney, Thyroid, Myeloid

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

(show all 47)
# Title Authors PMID Year
1
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. 6 57 25 61
20978020 2011
2
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 57 6 25
14976160 2004
3
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site. 25 61
30296891 2018
4
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. 57
25359976 2014
5
Gain-of-function mutations in SCN11A cause familial episodic pain. 6
24207120 2013
6
Structure of nerve growth factor complexed with the shared neurotrophin receptor p75. 6
15131306 2004
7
Congenital insensitivity to pain in four related Saudi families. 57
12220280 2002
8
Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. 57
12102461 2002
9
[Monozygotic twins with suspected hereditary sensory and autonomic neuropathy (HSAN) type V]. 57
10025138 1999
10
Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. 57
3472625 1987
11
Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy. 57
6189547 1983
12
Congenital sensory neuropathy with selective loss of small myelinated fibers. 57
77656 1978
13
Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature. 25
28124176 2018
14
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. 25
29253101 2018
15
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot. 25
28289907 2017
16
Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability. 25
28530638 2017
17
Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene. 25
28050684 2017
18
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. 25
26975306 2016
19
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. 25
26746779 2016
20
Timing, rates and spectra of human germline mutation. 25
26656846 2016
21
Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7. 25
26634308 2015
22
New Mendelian Disorders of Painlessness. 25
26549885 2015
23
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. 25
26068709 2015
24
Transcriptional regulator PRDM12 is essential for human pain perception. 25
26005867 2015
25
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 25
25118027 2015
26
Case Report: Neuropathic pain in a patient with congenital insensitivity to pain. 25
26676151 2014
27
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. 25
24290131 2013
28
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 25
24036948 2013
29
Leg length discrepancy in patients with slipped capital femoral epiphysis. 25
23594246 2013
30
Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. 25
23400697 2012
31
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. 25
21441906 2011
32
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. 25
20635406 2010
33
Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis. 25
20089052 2010
34
The dental management of a child with congenital insensitivity to pain. 25
20491220 2010
35
Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain. 25
19183217 2009
36
Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects. 25
18983665 2008
37
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 25
17470132 2007
38
An SCN9A channelopathy causes congenital inability to experience pain. 25
17167479 2006
39
Congenital insensitivity to pain. Orthopaedic manifestations. 25
11922368 2002
40
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. 25
11748840 2001
41
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. 25
10861667 2000
42
Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations. 25
10088743 1999
43
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 25
8696348 1996
44
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. 61
30384131 2018
45
Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies. 61
26232991 2015
46
In vitro receptor binding properties of a "painless" NGF mutein, linked to hereditary sensory autonomic neuropathy type V. 54
19945432 2010
47
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. 54
15468048 2004

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NGF-AS1 , NGF NM_002506.2(NGF):c.661C>T (p.Arg221Trp) SNV Pathogenic 14045 rs11466112 GRCh37: 1:115828756-115828756
GRCh38: 1:115286135-115286135
2 NGF NGF, 680C-A AND 2-BP DEL, 681GG Deletion Pathogenic 29802 GRCh37:
GRCh38:
3 SCN11A NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp) SNV Likely pathogenic 804348 rs483352921 GRCh37: 3:38936436-38936436
GRCh38: 3:38894945-38894945
4 NGF-AS1 , NGF NM_002506.2(NGF):c.165G>A (p.Pro55=) SNV Conflicting interpretations of pathogenicity 526753 rs149876217 GRCh37: 1:115829252-115829252
GRCh38: 1:115286631-115286631
5 NGF-AS1 , NGF NM_002506.2(NGF):c.174G>A (p.Ala58=) SNV Conflicting interpretations of pathogenicity 526751 rs147326889 GRCh37: 1:115829243-115829243
GRCh38: 1:115286622-115286622
6 NGF-AS1 , NGF NM_002506.2(NGF):c.93C>G (p.Thr31=) SNV Conflicting interpretations of pathogenicity 526752 rs1014644520 GRCh37: 1:115829324-115829324
GRCh38: 1:115286703-115286703
7 NGF-AS1 , NGF NM_002506.2(NGF):c.399C>A (p.Phe133Leu) SNV Uncertain significance 567617 rs746897874 GRCh37: 1:115829018-115829018
GRCh38: 1:115286397-115286397
8 NGF-AS1 , NGF NM_002506.2(NGF):c.638T>C (p.Met213Thr) SNV Uncertain significance 569781 rs985498627 GRCh37: 1:115828779-115828779
GRCh38: 1:115286158-115286158
9 NGF-AS1 , NGF NM_002506.2(NGF):c.515A>G (p.Gln172Arg) SNV Uncertain significance 577597 rs1557933464 GRCh37: 1:115828902-115828902
GRCh38: 1:115286281-115286281
10 NGF-AS1 , NGF NM_002506.3(NGF):c.145C>A (p.Arg49Ser) SNV Uncertain significance 962933 GRCh37: 1:115829272-115829272
GRCh38: 1:115286651-115286651
11 NGF-AS1 , NGF NM_002506.2(NGF):c.196C>A (p.Gln66Lys) SNV Uncertain significance 291992 rs766082334 GRCh37: 1:115829221-115829221
GRCh38: 1:115286600-115286600
12 NGF-AS1 , NGF NM_002506.2(NGF):c.371C>T (p.Ser124Phe) SNV Uncertain significance 456632 rs1011323001 GRCh37: 1:115829046-115829046
GRCh38: 1:115286425-115286425
13 NGF-AS1 , NGF NM_002506.2(NGF):c.83C>A (p.Ala28Glu) SNV Uncertain significance 526747 rs769465872 GRCh37: 1:115829334-115829334
GRCh38: 1:115286713-115286713
14 NGF-AS1 , NGF NM_002506.2(NGF):c.202C>T (p.Arg68Cys) SNV Uncertain significance 526750 rs572066909 GRCh37: 1:115829215-115829215
GRCh38: 1:115286594-115286594
15 NGF-AS1 , NGF NM_002506.2(NGF):c.439A>T (p.Thr147Ser) SNV Uncertain significance 641309 rs1571069577 GRCh37: 1:115828978-115828978
GRCh38: 1:115286357-115286357
16 NGF-AS1 , NGF NM_002506.2(NGF):c.184C>A (p.Arg62Ser) SNV Uncertain significance 641322 rs755243469 GRCh37: 1:115829233-115829233
GRCh38: 1:115286612-115286612
17 NGF-AS1 , NGF NM_002506.2(NGF):c.508T>C (p.Phe170Leu) SNV Uncertain significance 641867 rs139541754 GRCh37: 1:115828909-115828909
GRCh38: 1:115286288-115286288
18 NGF-AS1 , NGF NM_002506.2(NGF):c.38T>G (p.Leu13Arg) SNV Uncertain significance 648062 rs1571070221 GRCh37: 1:115829379-115829379
GRCh38: 1:115286758-115286758
19 NGF-AS1 , NGF NM_002506.2(NGF):c.31G>A (p.Ala11Thr) SNV Uncertain significance 649484 rs965438646 GRCh37: 1:115829386-115829386
GRCh38: 1:115286765-115286765
20 NGF-AS1 , NGF NM_002506.2(NGF):c.109T>C (p.Trp37Arg) SNV Uncertain significance 655197 rs770843971 GRCh37: 1:115829308-115829308
GRCh38: 1:115286687-115286687
21 NGF-AS1 , NGF NM_002506.2(NGF):c.145C>T (p.Arg49Cys) SNV Uncertain significance 662355 rs146716262 GRCh37: 1:115829272-115829272
GRCh38: 1:115286651-115286651
22 NGF-AS1 , NGF NM_002506.3(NGF):c.552C>T (p.Pro184=) SNV Uncertain significance 875323 GRCh37: 1:115828865-115828865
GRCh38: 1:115286244-115286244
23 NGF-AS1 , NGF NM_002506.3(NGF):c.283C>A (p.Arg95Ser) SNV Uncertain significance 875370 GRCh37: 1:115829134-115829134
GRCh38: 1:115286513-115286513
24 NGF-AS1 , NGF NM_002506.2(NGF):c.477G>A (p.Val159=) SNV Uncertain significance 291988 rs886045115 GRCh37: 1:115828940-115828940
GRCh38: 1:115286319-115286319
25 NGF-AS1 , NGF NM_002506.2(NGF):c.*120T>G SNV Uncertain significance 291986 rs886045114 GRCh37: 1:115828571-115828571
GRCh38: 1:115285950-115285950
26 NGF-AS1 , NGF NM_002506.2(NGF):c.687T>C (p.Cys229=) SNV Uncertain significance 291987 rs750539380 GRCh37: 1:115828730-115828730
GRCh38: 1:115286109-115286109
27 NGF-AS1 , NGF NM_002506.2(NGF):c.133G>A (p.Asp45Asn) SNV Uncertain significance 456625 rs1553234811 GRCh37: 1:115829284-115829284
GRCh38: 1:115286663-115286663
28 NGF-AS1 , NGF NM_002506.2(NGF):c.706A>C (p.Lys236Gln) SNV Uncertain significance 456636 rs561107153 GRCh37: 1:115828711-115828711
GRCh38: 1:115286090-115286090
29 NGF-AS1 , NGF NM_002506.2(NGF):c.170C>T (p.Ala57Val) SNV Uncertain significance 456626 rs770647680 GRCh37: 1:115829247-115829247
GRCh38: 1:115286626-115286626
30 NGF-AS1 , NGF NM_002506.2(NGF):c.35T>G (p.Phe12Cys) SNV Uncertain significance 456631 rs1553234832 GRCh37: 1:115829382-115829382
GRCh38: 1:115286761-115286761
31 NGF-AS1 , NGF NM_002506.3(NGF):c.491A>T (p.Asn164Ile) SNV Uncertain significance 861291 GRCh37: 1:115828926-115828926
GRCh38: 1:115286305-115286305
32 NGF-AS1 , NGF NM_002506.3(NGF):c.216G>A (p.Val72=) SNV Uncertain significance 940245 GRCh37: 1:115829201-115829201
GRCh38: 1:115286580-115286580
33 NGF-AS1 , NGF NM_002506.3(NGF):c.208A>G (p.Ile70Val) SNV Uncertain significance 964644 GRCh37: 1:115829209-115829209
GRCh38: 1:115286588-115286588
34 NGF-AS1 , NGF NM_002506.3(NGF):c.388A>G (p.Arg130Gly) SNV Uncertain significance 1000642 GRCh37: 1:115829029-115829029
GRCh38: 1:115286408-115286408
35 NGF-AS1 , NGF NM_002506.2(NGF):c.191C>T (p.Ala64Val) SNV Uncertain significance 456628 rs201087374 GRCh37: 1:115829226-115829226
GRCh38: 1:115286605-115286605
36 NGF-AS1 , NGF NM_002506.2(NGF):c.4T>C (p.Ser2Pro) SNV Uncertain significance 526745 rs1553234838 GRCh37: 1:115829413-115829413
GRCh38: 1:115286792-115286792
37 NGF-AS1 , NGF NM_002506.2(NGF):c.160G>A (p.Ala54Thr) SNV Uncertain significance 640133 rs200459956 GRCh37: 1:115829257-115829257
GRCh38: 1:115286636-115286636
38 NGF-AS1 , NGF NM_002506.2(NGF):c.185G>A (p.Arg62His) SNV Uncertain significance 662388 rs369266810 GRCh37: 1:115829232-115829232
GRCh38: 1:115286611-115286611
39 NGF NC_000001.10:g.(?_115828681)_(115829426_?)dup Duplication Uncertain significance 1019949 GRCh37: 1:115828681-115829426
GRCh38:
40 NGF-AS1 , NGF NM_002506.3(NGF):c.187G>A (p.Val63Met) SNV Uncertain significance 1024609 GRCh37: 1:115829230-115829230
GRCh38: 1:115286609-115286609
41 NGF-AS1 , NGF NM_002506.2(NGF):c.335C>G (p.Pro112Arg) SNV Uncertain significance 291990 rs147763877 GRCh37: 1:115829082-115829082
GRCh38: 1:115286461-115286461
42 NGF-AS1 , NGF NM_002506.2(NGF):c.421G>C (p.Val141Leu) SNV Uncertain significance 291989 rs199511298 GRCh37: 1:115828996-115828996
GRCh38: 1:115286375-115286375
43 NGF-AS1 , NGF NM_002506.2(NGF):c.257G>A (p.Arg86His) SNV Uncertain significance 456630 rs200629339 GRCh37: 1:115829160-115829160
GRCh38: 1:115286539-115286539
44 NGF-AS1 , NGF NM_002506.2(NGF):c.53C>T (p.Ala18Val) SNV Uncertain significance 526746 rs754287903 GRCh37: 1:115829364-115829364
GRCh38: 1:115286743-115286743
45 NGF-AS1 , NGF NM_002506.2(NGF):c.247C>T (p.Arg83Cys) SNV Uncertain significance 245650 rs138175552 GRCh37: 1:115829170-115829170
GRCh38: 1:115286549-115286549
46 NGF-AS1 , NGF NM_002506.2(NGF):c.670C>T (p.Arg224Trp) SNV Uncertain significance 526749 rs1553234715 GRCh37: 1:115828747-115828747
GRCh38: 1:115286126-115286126
47 NGF-AS1 , NGF NM_002506.2(NGF):c.539G>A (p.Arg180Gln) SNV Uncertain significance 576877 rs758166016 GRCh37: 1:115828878-115828878
GRCh38: 1:115286257-115286257
48 NGF-AS1 , NGF NM_002506.2(NGF):c.186C>T (p.Arg62=) SNV Uncertain significance 643517 rs780432648 GRCh37: 1:115829231-115829231
GRCh38: 1:115286610-115286610
49 NGF-AS1 , NGF NM_002506.2(NGF):c.146G>A (p.Arg49His) SNV Uncertain significance 644505 rs781072056 GRCh37: 1:115829271-115829271
GRCh38: 1:115286650-115286650
50 NGF-AS1 , NGF NM_002506.2(NGF):c.154C>T (p.Arg52Cys) SNV Uncertain significance 645117 rs766912679 GRCh37: 1:115829263-115829263
GRCh38: 1:115286642-115286642

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

72
# Symbol AA change Variation ID SNP ID
1 NGF p.Arg221Trp VAR_030659 rs11466112

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 NTRK1 NGFR NGF BDNF
2
Show member pathways
12.42 NTRK1 NGFR NGF BDNF
3
Show member pathways
12.26 NTRK1 NGFR NGF BDNF
4 12.09 STOML2 SCN11A NTRK1 NGFR NGF
5
Show member pathways
11.97 NTRK1 NGFR NGF BDNF
6
Show member pathways
11.84 NTRK1 NGFR NGF
7 11.72 NTRK1 NGFR NGF BDNF
8
Show member pathways
11.46 NGFR NGF BDNF
9
Show member pathways
11.32 NGFR NGF BDNF
10 11.32 NTRK1 NGFR NGF BDNF
11
Show member pathways
10.71 NTRK1 NGFR NGF BDNF
12
Show member pathways
10.47 NTRK1 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 endosome GO:0005768 9.35 RILP NTRK1 NGFR NGF ANKFY1
2 synaptic vesicle GO:0008021 9.33 NGF KIF1A BDNF
3 axon GO:0030424 9.02 SCN11A NTRK1 NGF KIF1A BDNF

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 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.58 NTRK1 NGF BDNF
2 negative regulation of neuron apoptotic process GO:0043524 9.56 RETREG1 NTRK1 NGF BDNF
3 peripheral nervous system development GO:0007422 9.43 NGF BDNF
4 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.37 NGFR NGF
5 nerve development GO:0021675 9.33 NGFR NGF BDNF
6 positive regulation of collateral sprouting GO:0048672 9.32 NGF BDNF
7 nerve growth factor signaling pathway GO:0038180 9.13 NTRK1 NGF BDNF
8 neurotrophin TRK receptor signaling pathway GO:0048011 8.92 NTRK1 NGFR NGF BDNF

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 small GTPase binding GO:0031267 9.56 SIKE1 RILP NGFR ANKFY1
2 nerve growth factor binding GO:0048406 9.16 NTRK1 NGFR
3 nerve growth factor receptor binding GO:0005163 8.96 NGF BDNF
4 neurotrophin binding GO:0043121 8.62 NTRK1 NGFR

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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