MCID: HRD021
MIFTS: 46

Hereditary Sensory Neuropathy malady

Genetic diseases, Neuronal diseases, Rare diseases, Gastrointestinal diseases categories

Aliases & Classifications for Hereditary Sensory Neuropathy

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Hereditary Sensory Neuropathy, Aliases & Descriptions:

Name: Hereditary Sensory Neuropathy 9
Indifference to Pain, Congenital, Autosomal Recessive 21 60
Congenital Insensitivity to Pain 9 21
Channelopathy-Associated Insensitivity to Pain 21
Hereditary Sensory and Autonomic Neuropathies 60
Hereditary Sensory and Autonomic Neuropathy 9
Congenital Indifference to Pain 21
Familial Dysautonomia, Type Ii 9
 
Pain Insensitivity, Congenital 21
Sensory Neuropathy, Hereditary 60
Sensory Neuropathy Hereditary 43
Congenital Pain Indifference 21
Congenital Analgesia 21
Asymbolia for Pain 21
Cip 21


Classifications:



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Disease Ontology9 DOID:0050548

Summaries for Hereditary Sensory Neuropathy

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Wikipedia:63 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

MalaCards based summary: Hereditary Sensory Neuropathy, also known as indifference to pain, congenital, autosomal recessive, is related to autonomic neuropathy and neuropathy, hereditary sensory, type ie. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (serine palmitoyltransferase, long chain base subunit 1), and among its related pathways are ceramide de novo biosynthesis and Activation of TRKA receptors. The compounds l-serine and cnqx have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related mouse phenotypes are homeostasis/metabolism and integument.

Related Diseases for Hereditary Sensory Neuropathy

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Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Ib 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1autonomic neuropathy32.5NTRK1
2neuropathy, hereditary sensory, type ie30.9SPTLC2, SPTLC1
3dementia30.5BDNF, NTRK2
4dysautonomia, familial29.9NTRK2, NTRK1, BDNF
5pancreatic cancer29.2NTRK2, BDNF, DNMT1, NTRK1
6neuropathy11.2
7insensitivity to pain, congenital, with anhidrosis10.8
8neuropathy, hereditary sensory and autonomic, type ia10.7
9neuropathy, hereditary sensory and autonomic, type v10.7
10sensory neuropathy type 110.6
11neuropathy, hereditary sensory and autonomic, type vi10.6
12hereditary sensory and autonomic neuropathy type iic10.6
13dysautonomia10.6
14hereditary sensory and autonomic neuropathy with deafness and global delay10.6
15x-linked hereditary sensory and autonomic neuropathy with deafness10.6
16hereditary sensory and autonomic neuropathy with spastic paraplegia10.6
17chronic diarrhea with hereditary sensory and autonomic neuropathy10.6
18dnmt1-related dementia, deafness, and sensory neuropathy10.5
19spasticity10.5
20adrenal neuroblastoma10.5KIF1A
21neuropathy, hereditary sensory and autonomic, type vii10.5
22paraplegia10.5
23congenital insensitivity to pain with hyperhidrosis10.5
24channelopathy-associated congenital insensitivity to pain10.5
25keratitis10.4
26dystonia10.4
27arthropathy10.3
28amyloid neuropathy10.3
29hansen's disease10.3
30critical illness polyneuropathy10.3
31gastroesophageal reflux10.3
32leprosy10.3
33charcot-marie-tooth disease10.3
34anhidrosis10.3
35ophthalmoplegia10.3
36tooth disease10.3
37ataxia10.3
38paroxysmal extreme pain disorder10.2
39pyruvate kinase deficiency10.2
40herpes zoster10.2
41orbital cellulitis10.2
42cellulitis10.2
43corneal ulcer10.2
44keratoderma10.2
45mental retardation10.2
46neuropathy, hereditary sensory, type if10.2
47neuropathy, hereditary sensory, type id10.2
48neuropathy, hereditary sensory and autonomic, type ii10.2
49dejerine-sottas disease10.2
50roussy-levy syndrome10.2

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



Diseases related to hereditary sensory neuropathy

Symptoms for Hereditary Sensory Neuropathy

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Drugs & Therapeutics for Hereditary Sensory Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Hereditary Sensory Neuropathy

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Genetic Tests for Hereditary Sensory Neuropathy

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Anatomical Context for Hereditary Sensory Neuropathy

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MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

31
Spinal cord, Bone, Brain, Testes, Trigeminal ganglion

Animal Models for Hereditary Sensory Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.1SPTLC1, WNK1, FOXE1, NTRK2, GABBR2, GABBR1
2MP:00107718.0SPTLC2, FOXE1, NTRK1, DNMT1, KIF1A, GABBR2
3MP:00053867.6SPTLC1, ATL1, NTRK2, NTRK1, DNMT1, KIF1A
4MP:00036317.5NTRK1, NTRK2, WNK1, SPTLC1, DNMT1, KIF1A
5MP:00107687.1NINJ1, SPTLC2, SPTLC1, WNK1, FOXE1, NTRK2
6MP:00053787.1WNK1, NTRK2, NTRK1, DNMT1, KIF1A, NFIL3

Publications for Hereditary Sensory Neuropathy

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Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy. (25124038)
2014
2
Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux. (24760089)
2014
3
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. (24736309)
2014
4
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. (22910560)
2012
5
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. (22340599)
2012
6
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. (21762444)
2011
7
Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. (19361385)
2009
8
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. (19132419)
2009
9
Hereditary sensory neuropathy type I. (18348718)
2008
10
Three patients in a Chinese family with hereditary sensory neuropathy mimicking leprosy. (19274992)
2008
11
Molecular genetics of hereditary sensory neuropathies. (16775373)
2006
12
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. (16311270)
2005
13
Hereditary sensory neuropathies. (15319794)
2004
14
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. (15546589)
2004
15
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. (12207934)
2002
16
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. (11801401)
2002
17
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (12417569)
2002
18
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. (11479835)
2001
19
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. (11003785)
2000
20
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. (10232753)
1999
21
Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9. (10087195)
1999
22
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. (9722951)
1998
23
Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA. (9371409)
1997
24
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. (8673507)
1996
25
Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. (7898717)
1995
26
Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline. (8451013)
1993
27
Two brothers with a variant of hereditary sensory neuropathy. (1376446)
1992
28
Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV). (1284106)
1992
29
Reduced numbers of calcitonin gene-related peptide-(CGRP-) and tachykinin-immunoreactive sensory neurones associated with greater enkephalin immunoreactivity in the dorsal horn of a mutant rat with hereditary sensory neuropathy. (2784359)
1989
30
Group C streptococcal arthritis and osteomyelitis in an adolescent with a hereditary sensory neuropathy. (3863096)
1985
31
Hereditary sensory neuropathy: biopsy study of an autosomal dominant variety. (3860748)
1985
32
Predominant sensory Guillain-BarrAc syndrome in hereditary sensory neuropathy--case report of a three-year-old boy. (6588305)
1984
33
Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs. (6203326)
1984
34
Reduced substance P in hereditary sensory neuropathy in the mf rat. (6188515)
1983
35
The clinical spectrum and morphology of type II hereditary sensory neuropathy. (6958343)
1982
36
Children with reduced sensitivity to pain: assessment of hereditary sensory neuropathy types II and IV. (6185383)
1982
37
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. (6167137)
1981
38
Hereditary sensory neuropathy: a case with pain and temperature dissociation. (6930314)
1980
39
Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. (6161237)
1980
40
Nerve xenografts to apportion the role of axon and Schwann cell in myelinated fiber absence in hereditary sensory neuropathy, type II. (289909)
1979
41
Clinical and ultrastructural study of a sporadic case of hereditary sensory neuropathy. Morphological evidence for a slow rate fiber degeneration. (90133)
1979
42
Hereditary sensory neuropathy with spastic paraplegia. (218673)
1979
43
Hereditary sensory neuropathy with anhidrosis. A new family with a study of the sensory conduction velocity. (92176)
1978
44
Recessive hereditary sensory neuropathy. (185339)
1976
45
Genetic heterogeneity of hereditary sensory neuropathy. (4361393)
1974
46
Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. (4351257)
1973
47
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. (5948001)
1966
48
A VIRGINIA KINSHIP WITH HEREDITARY SENSORY NEUROPATHY: PERONEAL MUSCULAR ATROPHY AND PES CAVUS. (14341177)
1965
49
Hereditary sensory neuropathy. (13235976)
1955
50
Orthopaedic problems of hereditary sensory neuropathy. (13271494)
1955

Variations for Hereditary Sensory Neuropathy

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Clinvar genetic disease variations for Hereditary Sensory Neuropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenic, Pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018

Expression for genes affiliated with Hereditary Sensory Neuropathy

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

Pathways for genes affiliated with Hereditary Sensory Neuropathy

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SPTLC1, SPTLC2
2
Show member pathways
9.8NTRK1, NTRK2
39.7GABBR1, GABBR2
4
Show member pathways
9.7GABBR1, GABBR2
59.5BDNF, NTRK1, NTRK2
6
Show member pathways
9.5BDNF, NTRK1, NTRK2
7
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.5BDNF, NTRK1, NTRK2
89.5NTRK2, NTRK1, BDNF
9
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.5NTRK2, NTRK1, BDNF
109.0NTRK2, NTRK1, GABBR2, GABBR1

Compounds for genes affiliated with Hereditary Sensory Neuropathy

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

(show all 43)
idCompoundScoreTop Affiliating Genes
1l-serine59 28 24 1213.3SPTLC1, SPTLC2
2cnqx43 5911.2BDNF, GABBR1
3lestaurtinib43 5911.2NTRK1, NTRK2
4dopac4310.2GABBR1, BDNF
5alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid4310.1GABBR1, BDNF
6bicuculline43 2811.1GABBR1, BDNF
7sch 509115910.1GABBR2, GABBR1
8cgp 54626 hydrochloride5910.1GABBR2, GABBR1
9cgp 524325910.1GABBR2, GABBR1
10cgp 55845 hydrochloride5910.1GABBR2, GABBR1
11cgp 3534843 5911.1GABBR2, GABBR1
12pilocarpine43 28 1212.1NTRK2, BDNF
13baclofen43 1211.0GABBR1, GABBR2
14gentamicin43 1211.0BDNF, NTRK2
15ceramide439.9SPTLC2, SPTLC1, NTRK1
16muscimol43 59 2811.9GABBR1, BDNF
17amitriptyline43 28 49 1212.9NTRK2, NTRK1, GABBR1
18valproate439.9DNMT1, GABBR1, BDNF
19quinolinic acid43 2410.9BDNF, NTRK2
20catecholamine439.9NTRK1, GABBR1, BDNF
21gnf 5837599.9BDNF, NTRK2, NTRK1
22ana 12599.9NTRK2, NTRK1, BDNF
23tlqp 21599.9NTRK2, NTRK1, BDNF
24bdnf (human)599.9NTRK2, NTRK1, BDNF
257,8-dihydroxyflavone59 4310.9NTRK2, NTRK1, BDNF
26k252a439.9NTRK2, NTRK1, BDNF
27kainate43 2810.8NTRK2, GABBR1, BDNF
28sodium43 2410.7WNK1, FOXE1, NTRK1, BDNF
29phosphoinositide439.6WNK1, NTRK2, NTRK1, BDNF
30gnrh439.6BDNF, GABBR1, NTRK1, NTRK2
31pd 98,059439.5NTRK2, NTRK1, DNMT1, BDNF
32dopamine43 28 24 1212.5NTRK2, NTRK1, GABBR1, BDNF
33methadone49 43 1211.5BDNF, NTRK2
34aspartate439.4BDNF, GABBR1, NTRK1, NTRK2
35adenylate439.3BDNF, GABBR1, DNMT1, NTRK1
36gaba439.3NTRK2, GABBR2, GABBR1, BDNF
37cyclic amp43 2410.2BDNF, GABBR1, NTRK1, NTRK2
38cycloheximide439.0NTRK2, NTRK1, DNMT1, BDNF
39serine438.9SPTLC2, SPTLC1, WNK1, NTRK2, NTRK1, DNMT1
40potassium43 24 1210.9WNK1, NTRK2, NTRK1, GABBR2, GABBR1, BDNF
41glutamate438.7BDNF, GABBR1, GABBR2, DNMT1, NTRK1, NTRK2
42tyrosine438.6NTRK2, NTRK1, DNMT1, GABBR1, BDNF, WNK1
43calcium43 49 24 1211.4WNK1, NTRK2, NTRK1, DNMT1, GABBR2, GABBR1

GO Terms for genes affiliated with Hereditary Sensory Neuropathy

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

idNameGO IDScoreTop Affiliating Genes
1serine C-palmitoyltransferase complexGO:00170599.8SPTLC1, SPTLC2
2G-protein coupled receptor heterodimeric complexGO:00380399.6GABBR1, GABBR2
3postsynaptic membraneGO:00452119.3GABBR1, GABBR2, NTRK2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1sphinganine biosynthetic processGO:004651110.3SPTLC1, SPTLC2
2sphingomyelin biosynthetic processGO:000668610.3SPTLC1, SPTLC2
3sphingosine biosynthetic processGO:004651210.3SPTLC2, SPTLC1
4ceramide biosynthetic processGO:004651310.2SPTLC1, SPTLC2
5sphingolipid biosynthetic processGO:003014810.1SPTLC1, SPTLC2
6positive regulation of synaptic transmission, glutamatergicGO:005196810.0NTRK1, NTRK2
7endoplasmic reticulum organizationGO:000702910.0ATL3, ATL1
8glutamate secretionGO:00140479.9NTRK2, BDNF
9mechanoreceptor differentiationGO:00424909.7BDNF, NTRK1, NTRK2
10gamma-aminobutyric acid signaling pathwayGO:00072149.7GABBR1, GABBR2
11activation of adenylate cyclase activityGO:00071909.7NTRK1, NTRK2
12negative regulation of neuron apoptotic processGO:00435249.7BDNF, NTRK1, NTRK2
13negative regulation of adenylate cyclase activityGO:00071949.7GABBR2, GABBR1
14feeding behaviorGO:00076319.5BDNF, NTRK2
15positive regulation of gene expressionGO:00106289.4NFIL3, DNMT1, NTRK2

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

idNameGO IDScoreTop Affiliating Genes
1ephrin receptor bindingGO:00468759.8NTRK1, NTRK2
2serine C-palmitoyltransferase activityGO:00047589.8SPTLC1, SPTLC2
3neurotrophin bindingGO:00431219.7NTRK1, NTRK2
4G-protein coupled GABA receptor activityGO:00049659.7GABBR1, GABBR2

Products for genes affiliated with Hereditary Sensory Neuropathy

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Sources for Hereditary Sensory Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet