CIP
MCID: HRD021
MIFTS: 56

Hereditary Sensory Neuropathy (CIP) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Hereditary Sensory Neuropathy

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

MalaCards: Hereditary Sensory Neuropathy, also known as congenital insensitivity to pain, is related to neuropathy and hereditary sensory neuropathy type 1. An important gene associated with Hereditary Sensory Neuropathy is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are Sphingolipid metabolism and ceramide de novo biosynthesis. The compounds batrachotoxin and lidocaine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related mouse phenotypes are behavior/neurological and integument.

Description from OMIM:47 613640, 201300, 613115, 162400, 608654 256800, 243000 more

Aliases & Classifications for Hereditary Sensory Neuropathy

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8Disease Ontology, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
channelopathy-associated congenital insensitivity to pain:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

hereditary sensory neuropathy 8
congenital insensitivity to pain 8 21
channelopathy-associated congenital insensitivity to pain 49
indifference to pain, congenital, autosomal recessive 21
insensitivity to pain, channelopathy-associated 47
channelopathy-associated insensitivity to pain 21
hereditary sensory and autonomic neuropathies 62
hereditary sensory and autonomic neuropathy 8
congenital indifference to pain 21
pain insensitivity, congenital 21
sensory neuropathy, hereditary 62
familial dysautonomia, type ii 8
sensory neuropathy hereditary 45
congenital pain indifference 21
congenital analgesia 21
asymbolia for pain 21
cip 21


External Ids:

Disease Ontology8 DOID:0050548
UMLS via Orphanet63 C0002768, C0020075
MESH via Orphanet36 D000699, D009477
ICD10 via Orphanet26 G60.8

Related Diseases for Hereditary Sensory Neuropathy

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Sensory Neuropathy family:

Hereditary Sensory Neuropathy Type Ia Hereditary Sensory Neuropathy Type 1
Sensory Neuropathy Type 1 Hereditary Sensory Neuropathy Type Id
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type Ib
Neuropathy, Hereditary Sensory, Type if

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

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.8SCN9A
2hereditary sensory neuropathy type 131.3SPTLC1, SPTLC2
3paroxysmal extreme pain disorder30.4SCN9A
4erythromelalgia30.3SCN9A
5autonomic neuropathy11.2
6hereditary sensory and autonomic neuropathy type v10.9
7congenital insensitivity to pain with anhidrosis10.8
8hereditary sensory and autonomic neuropathy type vi10.7
9x-linked hereditary sensory and autonomic neuropathy with deafness10.6
10dnmt1-related dementia, deafness, and sensory neuropathy10.6
11hereditary sensory and autonomic neuropathy type ic10.6
12hereditary sensory and autonomic neuropathy type iia10.6
13hereditary sensory and autonomic neuropathy type iib10.6
14dysautonomia10.6
15hereditary sensory and autonomic neuropathy with deafness and global delay10.6
16sensory neuropathy type 110.5
17congenital indifference to pain, autosomal recessive10.5
18spasticity10.5
19hereditary sensory and autonomic neuropathy type iic10.5
20neuropathy, hereditary sensory and autonomic, type vii10.5
21neuropathy, hereditary sensory, with spastic paraplegia10.5
22chronic diarrhea with hereditary sensory and autonomic neuropathy10.5
23dementia10.4
24paraplegia10.4
25hereditary sensory neuropathy type ia10.4
26hereditary sensory neuropathy type id10.4
27dystonia10.4
28keratitis10.4
29congenital insensitivity to pain with hyperhidrosis10.4
30arthropathy10.3
31amyloid neuropathy10.3
32hansen's disease10.3
33critical illness polyneuropathy10.3
34anhidrosis10.3
35charcot-marie-tooth disease10.3
36leprosy10.3
37tooth disease10.3
38myopathy of critical illness10.3
39herpes zoster10.2
40orbital cellulitis10.2
41cellulitis10.2
42corneal ulcer10.2
43shwachman-diamond syndrome10.2
44pyruvate kinase deficiency10.2
45keratoderma10.2
46mental retardation10.2
47septic shock10.2
48neuronitis10.1
49hereditary spastic paraplegia10.1
50muscular atrophy10.1

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

243000

Clinical features from OMIM:

613640,201300,613115,162400,608654,256800,243000

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

33
Spinal cord, Bone, Brain, Testes, Trigeminal ganglion

Animal Models for Hereditary Sensory Neuropathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6SPTLC1, ATL1, SCN10A, SCN9A, SCN11A, KIF1A
2MP:00107717.5KIF1A, FOXE1, SCN11A, SCN9A, SCN10A, SPTLC2
3MP:00036317.4SPTLC1, SCN10A, SCN9A, SCN11A, WNK1, KIF1A
4MP:00107687.3KIF1A, FOXE1, WNK1, SCN9A, SPTLC1, SPTLC2

Publications for Hereditary Sensory Neuropathy

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52PubMed
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Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. (24327336)
2013
2
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. (22910560)
2012
3
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. (21762444)
2011
4
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. (21532572)
2011
5
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. (20097765)
2010
6
Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. (19361385)
2009
7
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
8
Hereditary sensory neuropathy type I. (18348718)
2008
9
Three patients in a Chinese family with hereditary sensory neuropathy mimicking leprosy. (19274992)
2008
10
Molecular genetics of hereditary sensory neuropathies. (16775373)
2006
11
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. (16311270)
2005
12
Hereditary sensory neuropathies. (15319794)
2004
13
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. (15546589)
2004
14
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. (12207934)
2002
15
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
16
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (12417569)
2002
17
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. (11479835)
2001
18
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. (10636124)
2000
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--&gt;q22.3: exclusion of GAS1 and XPA. (9371409)
1997
24
Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. (7898717)
1995
25
Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline. (8451013)
1993
26
Two brothers with a variant of hereditary sensory neuropathy. (1376446)
1992
27
Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV). (1284106)
1992
28
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
29
Fine structural study of the spinal cord and spinal ganglia in mice afflicted with a hereditary sensory neuropathy, dystonia musculorum. (2804958)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Sensory Neuropathy:

64
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Arg907GlnVAR_064610

Clinvar genetic disease variations for Hereditary Sensory Neuropathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenic, Pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
2NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter)single nucleotide variantPathogenicrs121908908GRCh37Chr 2, 167143072: 167143072
3SCN9ASCN9A, 1-BP DEL, 2298TdeletionPathogenic
4NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter)single nucleotide variantPathogenicrs121908909GRCh37Chr 2, 167133643: 167133643
5SCN9ANM_002977.3(SCN9A): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs121908916GRCh37Chr 2, 167159672: 167159672
6NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter)single nucleotide variantPathogenicrs121908917GRCh37Chr 2, 167149864: 167149864

Expression for genes affiliated with Hereditary Sensory Neuropathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Sensory Neuropathy

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

Pathways for genes affiliated with Hereditary Sensory Neuropathy

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 53QIAGEN
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Compounds for genes affiliated with Hereditary Sensory Neuropathy

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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1batrachotoxin2910.0SCN10A, SCN9A
2lidocaine45 29 1112.0SCN9A, SCN10A
3zonisamide45 51 1111.9SCN9A, SCN11A
4cocaine45 1110.8SCN11A, SCN10A
5phrixotoxin 3619.7SCN11A, SCN10A, SCN9A
6qx 314 chloride619.7SCN10A, SCN9A, SCN11A
7tetrodotoxin citrate619.7SCN10A, SCN9A, SCN11A
8veratridine45 61 2911.7SCN10A, SCN9A, SCN11A
9tetrodotoxin45 61 2911.7SCN11A, SCN9A, SCN10A
10l-serine61 29 24 1112.6SPTLC1, SPTLC2
113-Dehydrosphinganine249.6SPTLC2, SPTLC1
12Pyridoxal 5'-phosphate249.5SPTLC2, SPTLC1
13Coenzyme A24 1110.4SPTLC1, SPTLC2
14carbon dioxide45 2410.3SPTLC1, SPTLC2
15Palmityl-CoA249.1SPTLC1, SPTLC2
16sodium45 249.7SCN10A, SCN9A, SCN11A, WNK1, FOXE1

GO Terms for genes affiliated with Hereditary Sensory Neuropathy

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16Gene Ontology
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Cellular components related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C-fiberGO:0442999.7SCN11A, SCN10A
2voltage-gated sodium channel complexGO:0015189.4SCN11A, SCN9A, SCN10A
3serine C-palmitoyltransferase complexGO:0170599.1SPTLC2, SPTLC1
4endoplasmic reticulum membraneGO:0057898.9ATL1, SPTLC1, SPTLC2

Biological processes related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1sphinganine biosynthetic processGO:0465119.6SPTLC1, SPTLC2
2sodium ion transportGO:0068149.6SCN11A, SCN9A, SCN10A
3sodium ion transmembrane transportGO:0357259.5SCN11A, SCN9A, SCN10A
4sphingomyelin biosynthetic processGO:0066869.5SPTLC2, SPTLC1
5sphingosine biosynthetic processGO:0465129.4SPTLC1, SPTLC2
6sphingolipid metabolic processGO:0066659.4SPTLC1, SPTLC2
7ceramide biosynthetic processGO:0465139.3SPTLC1, SPTLC2
8sphingolipid biosynthetic processGO:0301489.1SPTLC1, SPTLC2

Molecular functions related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyridoxal phosphate bindingGO:0301709.4SPTLC1, SPTLC2
2voltage-gated sodium channel activityGO:0052489.3SCN11A, SCN9A, SCN10A
3serine C-palmitoyltransferase activityGO:0047589.1SPTLC1, SPTLC2

Products for genes affiliated with Hereditary Sensory Neuropathy

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Sources for Hereditary Sensory Neuropathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet