HSAN
MCID: HRD021
MIFTS: 47

Hereditary Sensory Neuropathy (HSAN)

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 52 58 36 6
Hsan 52 58
Hereditary Sensory and Autonomic Neuropathies 71
Neuropathy, Sensory and Autonomic, Hereditary 39
Hereditary Sensory Autonomic Neuropathy 52
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 71
Sensory Neuropathy Hereditary 54

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050548
KEGG 36 H00265
MESH via Orphanet 44 D009477
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 72 C0027889
Orphanet 58 ORPHA140471
UMLS 71 C0027889 C0699739

Summaries for Hereditary Sensory Neuropathy

NIH Rare Diseases : 52 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, type id. 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 Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and spinal cord, 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.

KEGG : 36 Hereditary sensory and autonomic neuropathies (HSAN), also known as hereditary sensory neuropathies (HSN), are a clinically and genetically heterogeneous group of disorders of low prevalence. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSAN from Charcot-Marie-Tooth (CMT) syndrome [DS:H00264]. Many of the causing genes for autosomal-dominant and autosomal-recessive HSAN have been identified. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSAN. HSAN1 and CMT2B are clinically identical despite being caused by mutations in different genes.

Wikipedia : 74 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

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

(show top 50) (show all 222)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 34.4 SPTLC2 SPTLC1 DNMT1
2 neuropathy, hereditary sensory, type id 34.2 SPTLC2 ATL1
3 insensitivity to pain, congenital, with anhidrosis 33.8 NTRK1 NAA50 BDNF
4 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 33.8 SPTLC2 SPTLC1 NAA50 HSN1B
5 hereditary sensory and autonomic neuropathy type 1 33.3 SPTLC2 SPTLC1 RETREG1 NAA50 DNMT1 ATL3
6 neuropathy, hereditary sensory and autonomic, type ic 32.9 SPTLC2 SPTLC1 NAA50
7 neuropathy, hereditary sensory and autonomic, type ia 32.9 WNK1 SPTLC2 SPTLC1 NAA50
8 neuropathy, hereditary sensory and autonomic, type v 32.6 WNK1 SPTLC1 RETREG1 NTRK1 NGF NAA50
9 neuropathy, hereditary sensory and autonomic, type iia 32.2 WNK1 SPTLC2 SPTLC1 RETREG1 NTRK1 NGF
10 neuropathy, hereditary sensory and autonomic, type viii 32.0 RETREG1 NTRK1 NGF NAA50
11 neuropathy, hereditary sensory and autonomic, type iii 31.6 SPTLC1 PRICKLE4 NTRK2 NTRK1 NGF NAA50
12 osteomyelitis 31.0 SPTLC2 SPTLC1 RETREG1
13 charcot-marie-tooth disease and deafness 30.8 SPTLC2 SPTLC1 RETREG1 NAA50
14 spastic paraplegia 3a 30.8 ATL3 ATL1
15 sensory peripheral neuropathy 30.7 SPTLC1 RETREG1 NTRK1 NGF NAA50 CCT5
16 anhidrosis 30.6 NTRK1 NGF NAA50
17 autonomic dysfunction 30.4 SPTLC2 SPTLC1 RETREG1
18 neurogenic arthropathy 30.4 SPTLC1 NGF NAA50
19 charcot-marie-tooth disease, axonal, type 2e 30.3 SPTLC1 RETREG1 NGF NAA50 KIF1A CCT5
20 neuropathy 30.2 WNK1 SPTLC2 SPTLC1 RETREG1 NTRK1 NGF
21 peripheral nervous system disease 30.1 SPTLC1 NTRK1 NGF NAA50 ELP1 BDNF
22 neuropathy, hereditary sensory and autonomic, type iib 30.1 WNK1 RETREG1 NAA50 KIF1A
23 autonomic neuropathy 30.0 WNK1 SPTLC2 SPTLC1 RETREG1 NTRK1 NGF
24 hereditary spastic paraplegia 29.8 KIF1A CCT5 ATL3 ATL1
25 charcot-marie-tooth disease 28.9 WNK1 SPTLC2 SPTLC1 RETREG1 NTRK1 NGF
26 sptlc1-related hereditary sensory neuropathy 12.8
27 x-linked hereditary sensory and autonomic neuropathy with deafness 12.6
28 hereditary sensory and autonomic neuropathy with deafness and global delay 12.6
29 autosomal dominant hereditary sensory and autonomic neuropathy 12.6
30 autosomal recessive hereditary sensory and autonomic neuropathy 12.6
31 neuropathy, hereditary sensory, type if 12.3
32 spastic paraplegia 49, autosomal recessive 12.2
33 neuropathy, hereditary sensory, atypical 12.1
34 neuropathy, hereditary, with liability to pressure palsies 12.0
35 neuropathy, hereditary sensory, x-linked 11.9
36 neuropathy, hereditary sensory and autonomic, type vi 11.9
37 indifference to pain, congenital, autosomal recessive 11.7
38 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.7
39 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 11.7
40 neuropathy, hereditary sensory, type iic 11.6
41 hereditary neuropathies 11.6
42 deafness, x-linked 5, with peripheral neuropathy 11.5
43 prp systemic amyloidosis 11.5
44 ramos arroyo clark syndrome 11.4
45 spastic paraplegia type 49 11.4
46 neuropathy, hereditary sensory and autonomic, type vii 11.3
47 familial syringomyelia 11.3
48 charcot-marie-tooth disease, demyelinating, type 1b 10.4
49 charcot-marie-tooth disease, axonal, type 2a1 10.4
50 charcot-marie-tooth disease, demyelinating, type 1a 10.4

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 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.7 GABBR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.7 SPTLC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 NGF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 NGF NTRK1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 GABBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 NGF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 NGF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 GABBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 GABBR2 NGF NTRK1 SPTLC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.7 GABBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 NTRK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 NGF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.7 NTRK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 NTRK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.7 SPTLC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 SPTLC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 NTRK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.7 SPTLC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 SPTLC1

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATL1 BDNF DNMT1 ELP1 GABBR2 KIF1A
2 integument MP:0010771 9.81 BDNF DNMT1 ELP1 GABBR2 KIF1A NGF
3 mortality/aging MP:0010768 9.8 BDNF CCT5 DNMT1 ELP1 GABBR2 KIF1A
4 nervous system MP:0003631 9.4 BDNF DNMT1 ELP1 GABBR2 KIF1A NGF

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Carbidopa Approved Phase 3 28860-95-9 34359
3 Neurotransmitter Agents Phase 3
4 Dopamine Agents Phase 3
5 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
6 Antiparkinson Agents Phase 3
7
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951
8
Kinetin Approved Phase 1 525-79-1 3830
9
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057

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 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
3 Carbidopa in Familial Dysautonomia: Phase-II Study, Investigational New Drug (IND) 117435, Date: 01/07/13 Completed NCT02553265 Phase 2 Carbidopa Low Dose;Carbidopa High Dose
4 A Phase IIa Proof of Concept, Randomized, Double-blind, Placebo-controlled Study of the Effects of L-serine on Early Stage Alzheimer's Disease Patients Recruiting NCT03062449 Phase 2 L-Serine
5 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
6 The Safety , Tolerability and Efficacy of Dronabinol, a Synthetic Endocannabinoid Receptor Agonist, for the Treatment of Nausea and Vomiting in Patients With Familial Dysautonomia Withdrawn NCT02608931 Phase 2 Dronabinol
7 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
8 Establishing Continuous Cell Lines and Xenografts From Pediatric Cancers for Biological and Pre-Clinical Therapeutic Studies Completed NCT00898755
9 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 Natural History of Familial Dysautonomia Recruiting NCT03920774
11 Painful Channelopathies Study Recruiting NCT02696746
12 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939

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:

40
Skin, Tongue, Spinal Cord, Bone, Brain, Smooth Muscle, Testes

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 444)
# Title Authors PMID Year
1
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. 54 61
16373086 2006
2
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. 54 61
16311270 2005
3
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. 54 61
12207934 2002
4
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. 54 61
10567924 2000
5
Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II. 54 61
8895241 1996
6
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 61
30677517 2020
7
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation. 61
31957642 2020
8
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. 61
31488895 2020
9
FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy. 61
31930741 2020
10
First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. 61
31807999 2019
11
Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. 61
31814231 2019
12
The NGFR100W Mutation Specifically Impairs Nociception without Affecting Cognitive Performance in a Mouse Model of Hereditary Sensory and Autonomic Neuropathy Type V. 61
31685654 2019
13
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation. 61
31806079 2019
14
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). 61
31741675 2019
15
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. 61
31582811 2019
16
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. 61
31475481 2019
17
Cytotoxicity of 1-deoxysphingolipid unraveled by genome-wide genetic screens and lipidomics in Saccharomyces cerevisiae. 61
31509475 2019
18
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. 61
31509666 2019
19
Focal Epithelial Hyperplasia in a Child with Hereditary Sensory and Autonomic Neuropathy type IV: A Rare Co-Occurrence. 61
31645257 2019
20
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). 61
30911858 2019
21
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. 61
30995999 2019
22
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity. 61
31138658 2019
23
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. 61
30955194 2019
24
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 61
30866134 2019
25
Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study. 61
31203252 2019
26
Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. 61
30890343 2019
27
Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations. 61
31395116 2019
28
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA. 61
31132985 2019
29
Plantar Ulcers and Neuropathic Arthropathies: Associated Diseases, Polyneuropathy Correlates, and Risk Covariates. 61
30624254 2019
30
A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. 61
30666337 2019
31
ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy. 61
30773365 2019
32
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 61
30582020 2019
33
ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F. 61
30680846 2019
34
Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. 61
30334929 2019
35
Cholinergic striatal neurons are increased in HSAN V homozygous mice despite reduced NGF bioavailability. 61
30612733 2019
36
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. 61
30339187 2019
37
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5. 61
31737055 2019
38
Painless Nerve Growth Factor: A TrkA biased agonist mediating a broad neuroprotection via its actions on microglia cells. 61
30391352 2019
39
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 61
30626650 2019
40
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. 61
30075136 2018
41
Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles. 61
30230986 2018
42
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
43
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. 61
29949203 2018
44
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. 61
29701257 2018
45
Tsc3 regulates SPT amino acid choice in Saccharomyces cerevisiae by promoting alanine in the sphingolipid pathway. 61
30154231 2018
46
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. 61
30497409 2018
47
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 61
30373780 2018
48
Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice. 61
29061384 2018
49
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. 61
29982604 2018
50
Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases. 61
30011089 2018

Variations for Hereditary Sensory Neuropathy

ClinVar genetic disease variations for Hereditary Sensory Neuropathy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NTRK1 NM_002529.3(NTRK1):c.2162T>C (p.Phe721Ser)SNV Uncertain significance 637914 1:156849906-156849906 1:156880114-156880114
2 NTRK1 NM_002529.3(NTRK1):c.717+1G>CSNV Uncertain significance 637913 1:156838440-156838440 1:156868648-156868648

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:

36
# 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
Show member pathways
12.23 NTRK2 NTRK1 NGF BDNF
2 11.78 NTRK2 NTRK1 NGF BDNF
3 11.63 NTRK2 NTRK1 NGF BDNF
4 11.42 NTRK2 NTRK1 NGF BDNF
5
Show member pathways
11.24 NTRK2 NTRK1 NGF BDNF
6 10.67 NTRK2 NTRK1 NGF GABBR2 BDNF
7 10.55 NTRK2 BDNF
8
Show member pathways
10.17 NTRK2 NTRK1 NGF

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 dendrite GO:0030425 9.65 NTRK2 NTRK1 NGF KIF1A BDNF
2 endoplasmic reticulum tubular network GO:0071782 9.37 ATL3 ATL1
3 chaperonin-containing T-complex GO:0005832 9.32 CCT5 CCT4
4 endoplasmic reticulum tubular network membrane GO:0098826 9.16 ATL3 ATL1
5 axon GO:0030424 9.1 NTRK2 NTRK1 NGF KIF1A BDNF ATL1
6 serine C-palmitoyltransferase complex GO:0017059 8.96 SPTLC2 SPTLC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of synapse assembly GO:0051965 9.69 NTRK2 NTRK1 BDNF
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.62 NTRK2 NTRK1 NGF BDNF
3 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.58 CCT5 CCT4
4 nerve development GO:0021675 9.58 NGF BDNF
5 regulation of protein kinase B signaling GO:0051896 9.57 NTRK2 NTRK1
6 sphingosine biosynthetic process GO:0046512 9.56 SPTLC2 SPTLC1
7 positive regulation of establishment of protein localization to telomere GO:1904851 9.55 CCT5 CCT4
8 positive regulation of protein localization to Cajal body GO:1904871 9.54 CCT5 CCT4
9 positive regulation of collateral sprouting GO:0048672 9.52 NGF BDNF
10 positive regulation of non-membrane spanning protein tyrosine kinase activity GO:1903997 9.49 NTRK2 BDNF
11 sphingomyelin biosynthetic process GO:0006686 9.48 SPTLC2 SPTLC1
12 positive regulation of lipophagy GO:1904504 9.46 SPTLC2 SPTLC1
13 mechanoreceptor differentiation GO:0042490 9.43 NTRK2 NTRK1
14 brain-derived neurotrophic factor receptor signaling pathway GO:0031547 9.4 NTRK2 BDNF
15 neurotrophin signaling pathway GO:0038179 9.37 NTRK2 NTRK1
16 negative regulation of neuron apoptotic process GO:0043524 9.35 RETREG1 NTRK2 NTRK1 NGF BDNF
17 nerve growth factor signaling pathway GO:0038180 9.33 NTRK1 NGF BDNF
18 sphinganine biosynthetic process GO:0046511 9.26 SPTLC2 SPTLC1
19 neurotrophin TRK receptor signaling pathway GO:0048011 8.92 NTRK2 NTRK1 NGF BDNF

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 WNK1 SPTLC1 RETREG1 NTRK2 NTRK1 NINJ1
2 serine C-palmitoyltransferase activity GO:0004758 9.16 SPTLC2 SPTLC1
3 neurotrophin binding GO:0043121 8.96 NTRK2 NTRK1
4 neurotrophin receptor activity GO:0005030 8.62 NTRK2 NTRK1

Sources for Hereditary Sensory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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