MCID: HRD021
MIFTS: 50

Hereditary Sensory Neuropathy

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Sensory Neuropathy

MalaCards integrated aliases for Hereditary Sensory Neuropathy:

Name: Hereditary Sensory Neuropathy 12 15
Hereditary Sensory and Autonomic Neuropathy 12 54 38 6
Hereditary Sensory and Autonomic Neuropathies 74
Hereditary Sensory Autonomic Neuropathy 54
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 74
Sensory Neuropathy Hereditary 56
Hsan 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050548
KEGG 38 H00265

Summaries for Hereditary Sensory Neuropathy

NIH Rare Diseases : 54 Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers.Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function. HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner.

MalaCards based summary : Hereditary Sensory Neuropathy, also known as hereditary sensory and autonomic neuropathy, is related to neuropathy, hereditary sensory, type ie and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Sphingolipid metabolism and Endocytosis. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, spinal cord and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.

Wikipedia : 77 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

Related Diseases for Hereditary Sensory Neuropathy

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sptlc1-Related Hereditary Sensory Neuropathy Sensory Neuropathy Type 1

Diseases related to Hereditary Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 33.8 DNMT1 SPTLC1 SPTLC2
2 neuropathy, hereditary sensory and autonomic, type v 32.7 NGF NTRK1
3 hereditary sensory and autonomic neuropathy type 1 32.6 ATL1 ATL3 DNMT1 SPTLC1 SPTLC2
4 neuropathy, hereditary sensory and autonomic, type iia 32.3 ELP1 KIF1A RETREG1 WNK1
5 neuropathy, hereditary sensory and autonomic, type ic 32.2 SPTLC1 SPTLC2
6 neuropathy - hereditary 32.2 DNMT1 SPTLC1
7 sensory peripheral neuropathy 31.2 NGF NTRK1 SPTLC1
8 neuropathy, hereditary sensory and autonomic, type iii 31.1 ELP1 NGF NTRK2
9 dysautonomia 30.2 ELP1 NTRK1
10 anhidrosis 30.0 NGF NTRK1
11 hereditary spastic paraplegia 29.8 ATL1 ATL3 KIF1A
12 autonomic neuropathy 29.3 ELP1 KIF1A NGF NTRK1 RETREG1 SPTLC1
13 neuropathy 29.1 ATL3 DNMT1 ELP1 KIF1A NGF RETREG1
14 x-linked hereditary sensory and autonomic neuropathy with deafness 12.5
15 hereditary sensory and autonomic neuropathy with deafness and global delay 12.5
16 sptlc1-related hereditary sensory neuropathy 12.3
17 neuropathy, hereditary sensory, type if 12.2
18 insensitivity to pain, congenital, with anhidrosis 12.2
19 neuropathy, hereditary sensory, type id 12.2
20 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.9
21 neuropathy, hereditary sensory and autonomic, type ia 11.9
22 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.8
23 neuropathy, hereditary sensory, atypical 11.8
24 neuropathy, hereditary sensory, x-linked 11.8
25 neuropathy, hereditary sensory and autonomic, type vi 11.8
26 spastic paraplegia 49, autosomal recessive 11.6
27 neuropathy, hereditary sensory, type iic 11.5
28 deafness, x-linked 5 11.4
29 prp systemic amyloidosis 11.4
30 neuropathy, hereditary, with liability to pressure palsies 11.4
31 indifference to pain, congenital, autosomal recessive 11.3
32 ramos arroyo clark syndrome 11.3
33 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 11.2
34 neuropathy, hereditary sensory and autonomic, type vii 11.1
35 neuropathy, hereditary sensory and autonomic, type viii 11.1
36 familial syringomyelia 11.1
37 sensory neuropathy type 1 10.4
38 pain sensitivity quantitative trait locus 1 10.4
39 charcot-marie-tooth disease, demyelinating, type 1b 10.3
40 charcot-marie-tooth disease, axonal, type 2a1 10.3
41 charcot-marie-tooth disease, demyelinating, type 1a 10.3
42 charcot-marie-tooth disease and deafness 10.3
43 charcot-marie-tooth disease, type 4a 10.3
44 agenesis of the corpus callosum with peripheral neuropathy 10.3
45 charcot-marie-tooth disease, x-linked dominant, 6 10.3
46 charcot-marie-tooth disease, x-linked dominant, 1 10.3
47 charcot-marie-tooth disease, x-linked recessive, 2 10.3
48 charcot-marie-tooth disease, x-linked recessive, 3 10.3
49 cowchock syndrome 10.3
50 charcot-marie-tooth disease, x-linked recessive, 5 10.3

Graphical network of the top 20 diseases related to Hereditary Sensory Neuropathy:



Diseases related to Hereditary Sensory Neuropathy

Symptoms & Phenotypes for Hereditary Sensory Neuropathy

GenomeRNAi Phenotypes related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.58 SPTLC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 NGF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 NGF NTRK1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 NGF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 NGF NTRK1 SPTLC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 NTRK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 NGF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 NTRK1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 SPTLC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 SPTLC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 NTRK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 SPTLC1

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATL1 DNMT1 ELP1 KIF1A NGF NTRK1
2 growth/size/body region MP:0005378 9.86 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
3 integument MP:0010771 9.7 DNMT1 ELP1 KIF1A NGF NTRK1 RETREG1
4 mortality/aging MP:0010768 9.61 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
5 nervous system MP:0003631 9.28 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359
2
Dopamine Approved Phase 3,Phase 2 62-31-7, 51-61-6 681
3
Ipratropium Approved, Experimental Phase 3 22254-24-6, 60205-81-4 657309 43232
4 Neurotransmitter Agents Phase 3,Phase 2
5 Dopamine Agents Phase 3,Phase 2
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
7 Antiparkinson Agents Phase 3,Phase 2
8 Anti-Asthmatic Agents Phase 3
9 Autonomic Agents Phase 3,Phase 2
10 Bromides Phase 3
11 Adrenergic Agonists Phase 3,Phase 2
12 Adrenergic Agents Phase 3,Phase 2
13 Adrenergic beta-2 Receptor Agonists Phase 3
14 Tocolytic Agents Phase 3
15 Bronchodilator Agents Phase 3
16 Respiratory System Agents Phase 3
17 Cholinergic Agents Phase 3
18 Cholinergic Antagonists Phase 3
19 Peripheral Nervous System Agents Phase 3,Phase 2
20 Albuterol Phase 3
21 Anticonvulsants Phase 3
22 Pharmaceutical Solutions Phase 3
23 Adrenergic beta-Agonists Phase 3
24
Norepinephrine Approved Phase 2 51-41-2 439260
25
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
26
Kinetin Approved Phase 2 525-79-1 3830
27
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
28 Hormones Phase 2
29 Analgesics Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
31 Hormone Antagonists Phase 2
32 Cannabinoid Receptor Agonists Phase 2
33 Psychotropic Drugs Phase 2
34 Analgesics, Non-Narcotic Phase 2
35 Hallucinogens Phase 2

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
2 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
3 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
4 Carbidopa for the Treatment of Excessive Blood Pressure Variability Recruiting NCT02553265 Phase 2 Carbidopa Low Dose;Carbidopa High Dose
5 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
6 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
7 The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia Recruiting NCT02276716 Phase 2 Phosphatidylserine
8 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
9 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Completed NCT03013777 Not Applicable
10 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
11 The Natural History of Familial Dysautonomia Recruiting NCT03920774
12 Painful Channelopathies Study Recruiting NCT02696746
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
14 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939 Not Applicable
15 Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia Not yet recruiting NCT03911063 Not Applicable

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Genetic Tests for Hereditary Sensory Neuropathy

Anatomical Context for Hereditary Sensory Neuropathy

MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

42
Tongue, Spinal Cord, Bone, Skin, Brain, Testes, Trigeminal Ganglion

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 201)
# Title Authors Year
1
Hereditary sensory and autonomic neuropathy type IC (HSAN1C) accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. ( 30866134 )
2019
2
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. ( 30626650 )
2019
3
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). ( 30911858 )
2019
4
ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F. ( 30680846 )
2019
5
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. ( 30995999 )
2019
6
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. ( 29077663 )
2018
7
Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers. ( 29584606 )
2018
8
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. ( 29701257 )
2018
9
Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. ( 29982604 )
2018
10
Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases. ( 30011089 )
2018
11
Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'. ( 30181410 )
2018
12
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. ( 30342480 )
2018
13
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. ( 30384131 )
2018
14
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. ( 29778900 )
2018
15
Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). ( 27637569 )
2017
16
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. ( 28422281 )
2017
17
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. ( 28807049 )
2017
18
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. ( 29042446 )
2017
19
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). ( 27676246 )
2017
20
Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy. ( 28623285 )
2017
21
Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report. ( 27765018 )
2016
22
Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method. ( 26562335 )
2016
23
Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. ( 27247588 )
2016
24
A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency. ( 27277422 )
2016
25
Oral manifestations and prosthetic rehabilitation in hereditary sensory and autonomic neuropathy (HSAN)type IV: a case report. ( 28955566 )
2016
26
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. ( 26573920 )
2016
27
Painless Ulcers and Fissures of Toes: Hereditary Sensory Neuropathy, Not Leprosy. ( 26955138 )
2016
28
Hereditary sensory and autonomic neuropathy type V: Report of a rare case. ( 25684922 )
2015
29
The puzzle of orthostatic tolerance in hereditary sensory and autonomic neuropathy, type IV. ( 25866260 )
2015
30
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( 26395456 )
2015
31
Hereditary sensory and autonomic neuropathy types IV and V in Japan. ( 25422087 )
2015
32
Natural history and biomarkers in hereditary sensory neuropathy type 1. ( 25042817 )
2015
33
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. ( 24247255 )
2014
34
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. ( 24494679 )
2014
35
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation. ( 24631696 )
2014
36
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. ( 25033457 )
2014
37
Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation. ( 25287017 )
2014
38
Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux. ( 24760089 )
2014
39
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. ( 24327336 )
2014
40
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
2014
41
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy. ( 25124038 )
2014
42
Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity. ( 23112235 )
2013
43
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. ( 23495212 )
2013
44
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. ( 23521649 )
2013
45
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. ( 23596073 )
2013
46
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. ( 23658386 )
2013
47
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. ( 24070693 )
2013
48
Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child. ( 23175206 )
2012
49
Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families". ( 21847616 )
2012
50
Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia? ( 22140130 )
2012

Variations for Hereditary Sensory Neuropathy

ClinVar genetic disease variations for Hereditary Sensory Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.4700G> A (p.Trp1567Ter) single nucleotide variant Likely pathogenic rs200070962 GRCh37 Chromosome 2, 167060506: 167060506
2 SCN9A NM_002977.3(SCN9A): c.4700G> A (p.Trp1567Ter) single nucleotide variant Likely pathogenic rs200070962 GRCh38 Chromosome 2, 166203996: 166203996

Expression for Hereditary Sensory Neuropathy

Search GEO for disease gene expression data for Hereditary Sensory Neuropathy.

Pathways for Hereditary Sensory Neuropathy

Pathways related to Hereditary Sensory Neuropathy according to KEGG:

38
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Endocytosis hsa04144
3 Phagosome hsa04145
4 MAPK signaling pathway hsa04010
5 Apoptosis hsa04210
6 Neurotrophin signaling pathway hsa04722

GO Terms for Hereditary Sensory Neuropathy

Cellular components related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.77 ATL1 ATL3 RETREG1 SPTLC1 SPTLC2
2 dendrite GO:0030425 9.62 KIF1A NGF NTRK1 NTRK2
3 endoplasmic reticulum tubular network GO:0071782 9.26 ATL1 ATL3
4 endoplasmic reticulum tubular network membrane GO:0098826 9.16 ATL1 ATL3
5 axon GO:0030424 9.02 ATL1 KIF1A NGF NTRK1 NTRK2
6 serine C-palmitoyltransferase complex GO:0017059 8.96 SPTLC1 SPTLC2

Biological processes related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.88 ELP1 NTRK1 NTRK2 WNK1
2 protein autophosphorylation GO:0046777 9.69 NTRK1 NTRK2 WNK1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 NGF NTRK1 NTRK2
4 activation of MAPKK activity GO:0000186 9.6 NGF NTRK1
5 phosphatidylinositol-mediated signaling GO:0048015 9.59 NGF NTRK1
6 sphingolipid metabolic process GO:0006665 9.58 SPTLC1 SPTLC2
7 biosynthetic process GO:0009058 9.57 SPTLC1 SPTLC2
8 cellular response to nerve growth factor stimulus GO:1990090 9.56 NTRK1 NTRK2
9 positive regulation of axonogenesis GO:0050772 9.55 NGF NTRK2
10 endoplasmic reticulum organization GO:0007029 9.54 ATL1 ATL3
11 ceramide biosynthetic process GO:0046513 9.52 SPTLC1 SPTLC2
12 positive regulation of Ras protein signal transduction GO:0046579 9.49 NGF NTRK1
13 nerve growth factor signaling pathway GO:0038180 9.48 NGF NTRK1
14 negative regulation of neuron apoptotic process GO:0043524 9.46 NGF NTRK1 NTRK2 RETREG1
15 sphingosine biosynthetic process GO:0046512 9.43 SPTLC1 SPTLC2
16 sphingomyelin biosynthetic process GO:0006686 9.4 SPTLC1 SPTLC2
17 mechanoreceptor differentiation GO:0042490 9.37 NTRK1 NTRK2
18 positive regulation of lipophagy GO:1904504 9.32 SPTLC1 SPTLC2
19 neurotrophin signaling pathway GO:0038179 9.26 NTRK1 NTRK2
20 sphinganine biosynthetic process GO:0046511 8.96 SPTLC1 SPTLC2
21 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NGF NTRK1 NTRK2

Molecular functions related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 DNMT1 NTRK1 NTRK2 SPTLC1 SPTLC2 WNK1
2 serine C-palmitoyltransferase activity GO:0004758 9.16 SPTLC1 SPTLC2
3 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK2
4 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK2

Sources for Hereditary Sensory Neuropathy

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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