MCID: HRD021
MIFTS: 48

Hereditary Sensory Neuropathy

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Ear diseases, Fetal diseases, Mental 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 53 37 6
Hereditary Sensory and Autonomic Neuropathies 73
Hereditary Sensory Autonomic Neuropathy 53
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 73
Sensory Neuropathy Hereditary 55
Hsan 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050548
KEGG 37 H00265
UMLS 73 C0027889

Summaries for Hereditary Sensory Neuropathy

NIH Rare Diseases : 53 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 skin, 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 : 76 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
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 68)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 33.4 DNMT1 SPTLC1 SPTLC2
2 neuropathy, hereditary sensory and autonomic, type v 32.6 NGF NTRK1
3 hereditary sensory and autonomic neuropathy type 1 32.4 ATL1 ATL3 SPTLC1 SPTLC2
4 neuropathy, hereditary sensory and autonomic, type iia 30.9 ELP1 KIF1A RETREG1 WNK1
5 neuropathy, hereditary sensory and autonomic, type iii 30.0 ELP1 NGF NTRK2
6 anhidrosis 29.7 NGF NTRK1
7 hereditary spastic paraplegia 29.5 ATL1 ATL3 KIF1A
8 neuropathy 26.5 ATL3 DNMT1 ELP1 KIF1A NGF RETREG1
9 neuropathy, hereditary sensory and autonomic, type ia 12.0
10 neuropathy, hereditary sensory, type if 11.8
11 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.8
12 neuropathy, hereditary sensory, type id 11.8
13 insensitivity to pain, congenital, with anhidrosis 11.7
14 neuropathy, hereditary sensory, atypical 11.6
15 neuropathy, hereditary sensory, x-linked 11.6
16 neuropathy, hereditary sensory and autonomic, type vi 11.6
17 neuropathy, hereditary sensory, type iic 11.3
18 neuropathy, hereditary sensory and autonomic, type ic 11.0
19 dnmt1-related dementia, deafness, and sensory neuropathy 11.0
20 neuropathy, hereditary sensory and autonomic, type vii 11.0
21 neuropathy, hereditary sensory and autonomic, type viii 11.0
22 hereditary neuropathies 11.0
23 familial syringomyelia 11.0
24 sensory peripheral neuropathy 10.8
25 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.6 DNMT1 SPTLC1
26 spastic paraplegia 3a 10.5 ATL1 ATL3
27 type i 10.4
28 sensory neuropathy type 1 10.2
29 askin's tumor 10.1 NGF NTRK1
30 spasticity 10.1
31 prolactin producing pituitary tumor 10.1 NGF NTRK1
32 dementia 10.1
33 paraplegia 10.1
34 conjunctival nevus 10.1 NGF NTRK1
35 sweat gland disease 10.0 NGF NTRK1
36 dystonia 10.0
37 neuropathy sensory spastic paraplegia 10.0
38 neurotrophic keratopathy 10.0
39 autonomic dysfunction 10.0 RETREG1 SPTLC1 WNK1
40 gastroesophageal reflux 9.9
41 charcot-marie-tooth disease 9.9
42 tooth disease 9.9
43 chronic progressive external ophthalmoplegia 9.9
44 goldberg-shprintzen syndrome 9.9 KIF1A NGF
45 ganglioneuroblastoma 9.8 NTRK1 NTRK2
46 multiple self-healing squamous epithelioma 9.8
47 hypertrophic neuropathy of dejerine-sottas 9.8
48 roussy-levy hereditary areflexic dystasia 9.8
49 charcot-marie-tooth disease, axonal, type 2b 9.8
50 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.8

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:

26 (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 SPTLC1 NGF NTRK1
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:

46
# 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 RETREG1 SPTLC1 WNK1 DNMT1 ELP1 KIF1A

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 38101
2
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
3
Ipratropium Approved Phase 3 22254-24-6, 60205-81-4 43232
4 Antiparkinson Agents Phase 3,Phase 2
5 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
6 Dopamine Agents Phase 3,Phase 2
7 Neurotransmitter Agents Phase 3,Phase 2
8 Adrenergic Agents Phase 3,Phase 2
9 Adrenergic Agonists Phase 3,Phase 2
10 Adrenergic beta-2 Receptor Agonists Phase 3
11 Adrenergic beta-Agonists Phase 3
12 Albuterol Phase 3
13 Anti-Asthmatic Agents Phase 3
14 Anticonvulsants Phase 3
15 Autonomic Agents Phase 3,Phase 2
16 Bromides Phase 3
17 Bronchodilator Agents Phase 3
18 Cholinergic Agents Phase 3
19 Cholinergic Antagonists Phase 3
20 Peripheral Nervous System Agents Phase 3,Phase 2
21 Pharmaceutical Solutions Phase 3
22 Respiratory System Agents Phase 3
23 Tocolytic Agents 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 Analgesics Phase 2
29 Analgesics, Non-Narcotic Phase 2
30 Cannabinoid Receptor Agonists Phase 2
31 Hallucinogens Phase 2
32 Hormone Antagonists Phase 2
33 Hormones Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
35 Psychotropic Drugs Phase 2

Interventional clinical trials:

(show all 12)
# 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 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
10 Painful Channelopathies Study Recruiting NCT02696746
11 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Active, not recruiting NCT03013777 Not Applicable
12 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939 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:

41
Tongue, Spinal Cord, Skin, Brain, Trigeminal Ganglion, Testes, Bone

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 186)
# Title Authors Year
1
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. ( 29701257 )
2018
2
Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers. ( 29584606 )
2018
3
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. ( 29778900 )
2018
4
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. ( 28422281 )
2017
5
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. ( 29042446 )
2017
6
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. ( 29077663 )
2017
7
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
8
Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy. ( 28623285 )
2017
9
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). ( 27676246 )
2017
10
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
11
Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. ( 27247588 )
2016
12
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
13
Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). ( 27637569 )
2016
14
Painless Ulcers and Fissures of Toes: Hereditary Sensory Neuropathy, Not Leprosy. ( 26955138 )
2016
15
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. ( 26573920 )
2015
16
Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method. ( 26562335 )
2015
17
Hereditary sensory and autonomic neuropathy type V: Report of a rare case. ( 25684922 )
2015
18
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( 26395456 )
2015
19
The puzzle of orthostatic tolerance in hereditary sensory and autonomic neuropathy, type IV. ( 25866260 )
2015
20
Early-onset severe hereditary sensory and autonomic neuropathy typeA 1 with S331F SPTLC1 mutation. ( 24247255 )
2014
21
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. ( 24494679 )
2014
22
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. ( 25033457 )
2014
23
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
2014
24
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy. ( 25124038 )
2014
25
Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. ( 25042817 )
2014
26
Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation. ( 25287017 )
2014
27
Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux. ( 24760089 )
2014
28
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. ( 23495212 )
2013
29
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. ( 23596073 )
2013
30
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. ( 23521649 )
2013
31
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. ( 24070693 )
2013
32
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. ( 23658386 )
2013
33
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. ( 24327336 )
2013
34
Mutation in FAM134B causing severe hereditary sensory neuropathy. ( 21115472 )
2012
35
A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia). ( 22229594 )
2012
36
Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child. ( 23175206 )
2012
37
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. ( 22340599 )
2012
38
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. ( 22302274 )
2012
39
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. ( 22910560 )
2012
40
Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia? ( 22140130 )
2012
41
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
42
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. ( 21532572 )
2011
43
[Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances]. ( 22100327 )
2011
44
Targeted high-throughput sequencing identifies mutations in atlastin- 1 as a cause of hereditary sensory neuropathy type I. ( 21194679 )
2011
45
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. ( 21618344 )
2011
46
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. ( 21820098 )
2011
47
Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families. ( 21625937 )
2011
48
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. ( 21762444 )
2011
49
A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection. ( 20511489 )
2010
50
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. ( 20097765 )
2010

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:

37
# 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

Pathways related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.59 NGF NTRK1 NTRK2
2 11.4 NGF NTRK1 NTRK2
3
Show member pathways
10.92 NGF NTRK1 NTRK2
4
Show member pathways
9.84 NGF NTRK1 NTRK2

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 9.72 ATL1 ATL3 RETREG1 SPTLC1 SPTLC2
2 endoplasmic reticulum tubular network GO:0071782 9.26 ATL1 ATL3
3 endoplasmic reticulum tubular network membrane GO:0098826 9.16 ATL1 ATL3
4 axon GO:0030424 9.02 ATL1 KIF1A NGF NTRK1 NTRK2
5 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 9.89 ELP1 NTRK1 NTRK2 WNK1
2 protein autophosphorylation GO:0046777 9.71 NTRK1 NTRK2 WNK1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 NGF NTRK1 NTRK2
4 microtubule-based movement GO:0007018 9.65 KIF1A NGF NTRK1
5 phosphatidylinositol-mediated signaling GO:0048015 9.6 NGF NTRK1
6 biosynthetic process GO:0009058 9.58 SPTLC1 SPTLC2
7 cellular response to nerve growth factor stimulus GO:1990090 9.58 NTRK1 NTRK2
8 sphingolipid metabolic process GO:0006665 9.57 SPTLC1 SPTLC2
9 positive regulation of axonogenesis GO:0050772 9.56 NGF NTRK2
10 endoplasmic reticulum organization GO:0007029 9.55 ATL1 ATL3
11 ceramide biosynthetic process GO:0046513 9.52 SPTLC1 SPTLC2
12 positive regulation of Ras protein signal transduction GO:0046579 9.51 NGF NTRK1
13 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 NGF NTRK1
14 nerve growth factor signaling pathway GO:0038180 9.43 NGF NTRK1
15 sphingosine biosynthetic process GO:0046512 9.4 SPTLC1 SPTLC2
16 sphingomyelin biosynthetic process GO:0006686 9.37 SPTLC1 SPTLC2
17 positive regulation of lipophagy GO:1904504 9.32 SPTLC1 SPTLC2
18 mechanoreceptor differentiation GO:0042490 9.26 NTRK1 NTRK2
19 negative regulation of neuron apoptotic process GO:0043524 9.26 NGF NTRK1 NTRK2 RETREG1
20 neurotrophin signaling pathway GO:0038179 9.16 NTRK1 NTRK2
21 sphinganine biosynthetic process GO:0046511 8.62 SPTLC1 SPTLC2

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 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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