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 53 59 37 6
Hsan 53 59
Hereditary Sensory and Autonomic Neuropathies 72
Neuropathy, Sensory and Autonomic, Hereditary 40
Hereditary Sensory Autonomic Neuropathy 53
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 72
Sensory Neuropathy Hereditary 55

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050548
KEGG 37 H00265
MESH via Orphanet 45 D009477
ICD10 via Orphanet 34 G60.8
UMLS via Orphanet 73 C0027889
Orphanet 59 ORPHA140471
UMLS 72 C0027889 C0699739

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 SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), 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 behavior/neurological and growth/size/body region

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

KEGG : 37
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 : 75 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

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 34.1 SPTLC2 SPTLC1 DNMT1
2 neuropathy, hereditary sensory and autonomic, type v 33.3 NTRK1 NGF
3 neuropathy, hereditary sensory and autonomic, type ic 33.2 SPTLC2 SPTLC1
4 hereditary sensory and autonomic neuropathy type 1 33.0 SPTLC2 SPTLC1 DNMT1 ATL3 ATL1
5 neuropathy, hereditary sensory and autonomic, type iii 31.5 NTRK2 NGF ELP1
6 neuropathy, hereditary sensory and autonomic, type iia 31.3 WNK1 SCN9A RETREG1 KIF1A ELP1
7 sensory peripheral neuropathy 31.3 SPTLC1 NTRK1 NGF
8 spastic paraplegia 3a 30.8 ATL3 ATL1
9 neurogenic arthropathy 30.5 SPTLC1 NGF
10 anhidrosis 30.4 NTRK1 NGF
11 hereditary spastic paraplegia 30.1 KIF1A ATL3 ATL1
12 dysautonomia 29.6 NTRK1 ELP1
13 peripheral nervous system disease 29.0 SPTLC1 SCN9A NGF ELP1
14 neuropathy 27.1 WNK1 SPTLC2 SPTLC1 SCN9A RETREG1 NGF
15 autonomic neuropathy 26.5 WNK1 SPTLC2 SPTLC1 SCN9A RETREG1 NTRK1
16 sptlc1-related hereditary sensory neuropathy 12.8
17 x-linked hereditary sensory and autonomic neuropathy with deafness 12.6
18 hereditary sensory and autonomic neuropathy with deafness and global delay 12.6
19 autosomal dominant hereditary sensory and autonomic neuropathy 12.6
20 autosomal recessive hereditary sensory and autonomic neuropathy 12.6
21 neuropathy, hereditary sensory, type if 12.3
22 insensitivity to pain, congenital, with anhidrosis 12.3
23 neuropathy, hereditary sensory, type id 12.3
24 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 12.2
25 neuropathy, hereditary sensory and autonomic, type ia 12.1
26 neuropathy, hereditary sensory, atypical 12.1
27 neuropathy, hereditary, with liability to pressure palsies 12.0
28 neuropathy, hereditary sensory, x-linked 11.9
29 neuropathy, hereditary sensory and autonomic, type vi 11.9
30 indifference to pain, congenital, autosomal recessive 11.7
31 spastic paraplegia 49, autosomal recessive 11.7
32 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.7
33 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 11.6
34 hereditary neuropathies 11.6
35 neuropathy, hereditary sensory, type iic 11.6
36 deafness, x-linked 5 11.5
37 prp systemic amyloidosis 11.5
38 ramos arroyo clark syndrome 11.4
39 spastic paraplegia type 49 11.4
40 neuropathy, hereditary sensory and autonomic, type vii 11.3
41 neuropathy, hereditary sensory and autonomic, type viii 11.3
42 familial syringomyelia 11.3
43 charcot-marie-tooth disease, demyelinating, type 1b 10.8
44 hereditary motor and sensory neuropathy, type iic 10.8
45 charcot-marie-tooth disease, axonal, type 2a1 10.4
46 charcot-marie-tooth disease, demyelinating, type 1a 10.4
47 charcot-marie-tooth disease and deafness 10.4
48 charcot-marie-tooth disease, type 4a 10.4
49 agenesis of the corpus callosum with peripheral neuropathy 10.4
50 charcot-marie-tooth disease, x-linked dominant, 6 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

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ATL1 DNMT1 ELP1 KIF1A NGF NTRK1
2 growth/size/body region MP:0005378 9.91 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
3 integument MP:0010771 9.76 DNMT1 ELP1 KIF1A NGF NTRK1 RETREG1
4 mortality/aging MP:0010768 9.65 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
5 nervous system MP:0003631 9.32 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 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 Dopamine Agents Phase 3
4 Antiparkinson Agents Phase 3
5 Neurotransmitter Agents Phase 3
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
7
Serine Approved, 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 Recruiting 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:

41
Skin, Tongue, Spinal Cord, Bone, Brain, Testes, Smooth Muscle

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 430)
# 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. 9 38
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. 9 38
16311270 2005
3
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. 9 38
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. 9 38
10567924 2000
5
Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II. 9 38
8895241 1996
6
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. 38
30995999 2019
7
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity. 38
31138658 2019
8
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 38
30866134 2019
9
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. 38
30955194 2019
10
Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study. 38
31203252 2019
11
Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. 38
30890343 2019
12
Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations. 38
31395116 2019
13
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA. 38
31132985 2019
14
Plantar Ulcers and Neuropathic Arthropathies: Associated Diseases, Polyneuropathy Correlates, and Risk Covariates. 38
30624254 2019
15
A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. 38
30666337 2019
16
ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy. 38
30773365 2019
17
ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F. 38
30680846 2019
18
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). 38
30911858 2019
19
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 38
30582020 2019
20
Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. 38
30334929 2019
21
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. 38
30339187 2019
22
Cholinergic striatal neurons are increased in HSAN V homozygous mice despite reduced NGF bioavailability. 38
30612733 2019
23
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 38
30626650 2019
24
Painless Nerve Growth Factor: A TrkA biased agonist mediating a broad neuroprotection via its actions on microglia cells. 38
30391352 2019
25
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 38
30677517 2019
26
Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles. 38
30230986 2018
27
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. 38
30384131 2018
28
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. 38
30075136 2018
29
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. 38
29949203 2018
30
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. 38
29701257 2018
31
Tsc3 regulates SPT amino acid choice in Saccharomyces cerevisiae by promoting alanine in the sphingolipid pathway. 38
30154231 2018
32
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. 38
30497409 2018
33
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 38
30373780 2018
34
Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice. 38
29061384 2018
35
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. 38
29982604 2018
36
Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases. 38
30011089 2018
37
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. 38
30342480 2018
38
Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'. 38
30181410 2018
39
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. 38
29778900 2018
40
RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer. 38
29226326 2018
41
Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. 38
29768202 2018
42
Swedish Nerve Growth Factor Mutation (NGFR100W) Defines a Role for TrkA and p75NTR in Nociception. 38
29483280 2018
43
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. 38
29077663 2018
44
Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers. 38
29584606 2018
45
Hereditary Neuropathies. 38
29478438 2018
46
Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. 38
29289840 2018
47
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site. 38
30296891 2018
48
Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report. 38
30235436 2018
49
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core. 38
29180453 2018
50
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. 38
30420926 2018

Variations for Hereditary Sensory Neuropathy

ClinVar genetic disease variations for Hereditary Sensory Neuropathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_002977.3(SCN9A): c.4700G> A (p.Trp1567Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200070962 2:167060506-167060506 2:166203996-166203996
2 NTRK1 NM_002529.3(NTRK1): c.2162T> C (p.Phe721Ser) single nucleotide variant Uncertain significance 1:156849906-156849906 1:156880114-156880114
3 NTRK1 NM_002529.3(NTRK1): c.717+1G> C single nucleotide variant Uncertain significance 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:

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

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 SPTLC2 SPTLC1 RETREG1 ATL3 ATL1
2 dendrite GO:0030425 9.62 NTRK2 NTRK1 NGF KIF1A
3 endoplasmic reticulum tubular network GO:0071782 9.26 ATL3 ATL1
4 serine C-palmitoyltransferase complex GO:0017059 9.16 SPTLC2 SPTLC1
5 axon GO:0030424 9.1 SCN9A NTRK2 NTRK1 NGF KIF1A ATL1
6 endoplasmic reticulum tubular network membrane GO:0098826 8.96 ATL3 ATL1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.7 WNK1 NTRK2 NTRK1
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.65 NTRK2 NTRK1 NGF
3 sphingolipid metabolic process GO:0006665 9.58 SPTLC2 SPTLC1
4 biosynthetic process GO:0009058 9.58 SPTLC2 SPTLC1
5 cellular response to nerve growth factor stimulus GO:1990090 9.57 NTRK2 NTRK1
6 positive regulation of axonogenesis GO:0050772 9.56 NTRK2 NGF
7 endoplasmic reticulum organization GO:0007029 9.55 ATL3 ATL1
8 ceramide biosynthetic process GO:0046513 9.54 SPTLC2 SPTLC1
9 positive regulation of Ras protein signal transduction GO:0046579 9.51 NTRK1 NGF
10 sensory perception of pain GO:0019233 9.5 SCN9A RETREG1 NTRK1
11 nerve growth factor signaling pathway GO:0038180 9.49 NTRK1 NGF
12 sphingosine biosynthetic process GO:0046512 9.46 SPTLC2 SPTLC1
13 negative regulation of neuron apoptotic process GO:0043524 9.46 RETREG1 NTRK2 NTRK1 NGF
14 sphingomyelin biosynthetic process GO:0006686 9.43 SPTLC2 SPTLC1
15 positive regulation of lipophagy GO:1904504 9.4 SPTLC2 SPTLC1
16 mechanoreceptor differentiation GO:0042490 9.37 NTRK2 NTRK1
17 neurotrophin signaling pathway GO:0038179 9.26 NTRK2 NTRK1
18 sphinganine biosynthetic process GO:0046511 8.96 SPTLC2 SPTLC1
19 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NTRK2 NTRK1 NGF

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 WNK1 SPTLC2 SPTLC1 NTRK2 NTRK1 DNMT1
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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