CIP
MCID: HRD021
MIFTS: 58

Hereditary Sensory Neuropathy (CIP) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Sensory Neuropathy

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 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 neuropathy hereditary sensory and autonomic 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 ceramide de novo biosynthesis and Synaptic transmission: ion currents. The compounds Lacosamide and phrixotoxin 3 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related mouse phenotypes are integument and growth/size.

Description from OMIM:46 608654, 613115, 256800, 201300, 162400 613640, 243000 more

Aliases & Classifications for Hereditary Sensory Neuropathy

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 48
indifference to pain, congenital, autosomal recessive 21
insensitivity to pain, channelopathy-associated 46
channelopathy-associated insensitivity to pain 21
hereditary sensory and autonomic neuropathies 60
hereditary sensory and autonomic neuropathy 8
congenital indifference to pain 21
pain insensitivity, congenital 21
sensory neuropathy, hereditary 60
familial dysautonomia, type ii 8
sensory neuropathy hereditary 44
congenital pain indifference 21
congenital analgesia 21
asymbolia for pain 21
cip 21


External Ids:

Disease Ontology8 DOID:0050548
UMLS via Orphanet61 C0002768, C0020075
MESH via Orphanet35 D000699, D009477
ICD10 via Orphanet26 G60.8

Related Diseases for Hereditary Sensory Neuropathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hereditary Sensory Neuropathy family:

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

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.6GJB1, IKBKAP, SCN9A
2neuropathy hereditary sensory and autonomic type 131.1SPTLC2, SPTLC1
3sensory peripheral neuropathy30.4NTRK1, GJB1, SPTLC1
4peripheral neuropathy30.4NTRK1, WNK1, SPTLC1, SPTLC2
5anhidrosis30.4NGFR, NTRK1
6autonomic neuropathy30.1IKBKAP, NTRK1
7riley-day syndrome30.1NTRK1, IKBKAP
8hereditary sensory and autonomic neuropathy iv11.0
9hereditary sensory and autonomic neuropathy type v10.8
10hereditary sensory and autonomic neuropathy type vi10.7
11x-linked hereditary sensory and autonomic neuropathy with deafness10.6
12dnmt1-related dementia, deafness, and sensory neuropathy10.5
13hereditary sensory and autonomic neuropathy type ic10.5
14hereditary sensory and autonomic neuropathy type iia10.5
15hereditary sensory and autonomic neuropathy type iib10.5
16hereditary sensory and autonomic neuropathy with deafness and global delay10.5
17congenital indifference to pain, autosomal recessive10.5
18pain disorder10.5
19hereditary sensory and autonomic neuropathy type iic10.4
20neuropathy, hereditary sensory and autonomic, type vii10.4
21neuropathy, hereditary sensory, with spastic paraplegia10.4
22hereditary spastic paraplegia10.4
23dementia10.4
24paraplegia10.4
25hereditary sensory neuropathy type ia10.4
26hereditary sensory neuropathy type id10.4
27paroxysmal extreme pain disorder10.4
28keratitis10.3
29congenital insensitivity to pain with hyperhidrosis10.3
30autonomic peripheral neuropathy10.3
31charcot-marie-tooth disease type 110.3
32arthropathy10.3
33charcot-marie-tooth neuropathy type 110.3
34critical illness polyneuropathy10.3
35charcot-marie-tooth disease10.3
36leprosy10.3
37ophthalmoplegia10.3
38tooth disease10.3
39charcot-marie-tooth hereditary neuropathy10.3
40hereditary ataxia10.3
41myopathy of critical illness10.2
42orbital cellulitis10.2
43cellulitis10.2
44herpes zoster10.2
45corneal ulcer10.2
46shwachman-diamond syndrome10.2
47axonal neuropathy10.1
48friedreich ataxia10.1
49motor peripheral neuropathy10.1
50neuronitis10.1

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



Diseases related to hereditary sensory neuropathy

Clinical Features for Hereditary Sensory Neuropathy

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

243000

Drugs & Therapeutics for Hereditary Sensory Neuropathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hereditary Sensory Neuropathy

Drug clinical trials:

Search ClinicalTrials for Hereditary Sensory Neuropathy

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Search CenterWatch for Hereditary Sensory Neuropathy

Genetic Tests for Hereditary Sensory Neuropathy

About this section

Anatomical Context for Hereditary Sensory Neuropathy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

32
Spinal cord, Skin, Bone, Brain, Heart, Testes, Trigeminal ganglion

Animal Models for Hereditary Sensory Neuropathy or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3SCN11A, SCN9A, SCN10A, FOXE1, GABBR1, NTRK1
2MP:00053788.2NTRK1, NFIL3, DNMT1, NGFR, WNK1, IKBKAP
3MP:00053868.0SPTLC1, SCN10A, SCN9A, SCN11A, GABBR1, ATL1
4MP:00036317.8NTRK1, GABBR1, SCN11A, SCN9A, SCN10A, DNMT1
5MP:00107687.6DNMT1, NTRK1, GABBR1, SCN9A, FOXE1, NGFR

Publications for Hereditary Sensory Neuropathy

About this section
Sources:
50PubMed
See all sources

Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. (23596073)
2013
2
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. (22302274)
2012
3
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. (22340599)
2012
4
Letter to the editors: comment on &quot;hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families&quot;. (21847616)
2012
5
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (21820098)
2011
6
Molecular pathogenesis of hereditary motor and sensory neuropathy]. (22235654)
2011
7
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. (21628467)
2011
8
Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV. (21655028)
2011
9
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (20920666)
2010
10
A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection. (20511489)
2010
11
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). (19536174)
2009
12
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
13
Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (19651702)
2009
14
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. (20020398)
2009
15
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. (18322713)
2008
16
Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy type V): a rare case report. (18647521)
2008
17
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. (18018475)
2007
18
A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration. (16836519)
2006
19
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. (16946995)
2006
20
Hereditary sensory neuropathies. (15319794)
2004
21
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. (15546589)
2004
22
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. (12838516)
2003
23
Hereditary motor and sensory neuropathy type VI with optic atrophy. (14516807)
2003
24
Four siblings with type II hereditary sensory and autonomic neuropathy. (12368536)
2002
25
Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a). (11796774)
2002
26
A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. (11310631)
2001
27
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. (11003785)
2000
28
Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis. (10942106)
2000
29
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. (10499202)
1999
30
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. (10463355)
1999
31
Autonomic function in patients with hereditary motor and sensory neuropathy type I and Lambert-Eaton myasthenic syndrome. (10499205)
1999
32
Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. (9798226)
1998
33
Hereditary motor and sensory neuropathy mimicking hansen's disease. (20948037)
1996
34
The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. (8673084)
1996
35
Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. (7652980)
1995
36
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) (7527213)
1994
37
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (20301546)
1993
38
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. (8429311)
1993
39
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). (8492918)
1993
40
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). (7506095)
1993
41
Two brothers with a variant of hereditary sensory neuropathy. (1376446)
1992
42
End-plates, transmission and contractile characteristics of muscles without spindles in the hereditary sensory neuropathy of the Sprawling mouse. (2168780)
1990
43
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
44
Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. (2747736)
1989
45
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. (2976839)
1988
46
Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. (3479531)
1987
47
Predominant sensory Guillain-BarrAc syndrome in hereditary sensory neuropathy--case report of a three-year-old boy. (6588305)
1984
48
Brainstem auditory evoked responses in hereditary motor-sensory neuropathy: site of origin of wave II. (6287357)
1982
49
A new variety of hereditary sensory neuropathy. (191348)
1977
50
Ulcero-mutilating acropathy, hereditary sensory neuropathy and signs of Friedreich heredo-ataxia in two brothers. (5556920)
1971

Genetic Variations for Hereditary Sensory Neuropathy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hereditary Sensory Neuropathy:

62
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Arg907GlnVAR_064610

Expression for genes affiliated with Hereditary Sensory Neuropathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
See all sources

Pathways related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SPTLC1, SPTLC2
210.0SCN11A, SCN9A, SCN10A
310.0SCN11A, SCN9A, SCN10A
4
Hide members
9.5NGFR, NTRK1, SCN11A, SCN9A, SCN10A

Compounds for genes affiliated with Hereditary Sensory Neuropathy

About this section
Sources:
11DrugBank, 59Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Hereditary Sensory Neuropathy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1Lacosamide1110.5SCN9A, SCN10A
2phrixotoxin 35910.3SCN11A, SCN10A, SCN9A
3qx 314 chloride5910.3SCN10A, SCN9A, SCN11A
4tetrodotoxin citrate5910.3SCN10A, SCN9A, SCN11A
5veratridine44 59 2812.3SCN10A, SCN9A, SCN11A
6batrachotoxin2810.3SCN9A, SCN10A
7ana 125910.2NTRK1, NGFR
8tlqp 215910.2NTRK1, NGFR
9bdnf (human)5910.2NTRK1, NGFR
10procaine44 28 1112.2DNMT1, SCN10A
11gnf 58375910.2NTRK1, NGFR
127,8-dihydroxyflavone44 5911.1NGFR, NTRK1
13tetrodotoxin44 59 2812.1SCN10A, SCN9A, SCN11A
14cocaine44 1110.9GABBR1, SCN11A, SCN10A
15ceramide449.9NTRK1, NGFR, SPTLC1, SPTLC2
16l-serine28 59 11 2412.8SPTLC2, SPTLC1
17sodium44 2410.7FOXE1, SCN10A, SCN9A, SCN11A, NTRK1, WNK1
18catecholamine449.7NGFR, NTRK1, GABBR1
19potassium44 11 2411.4GABBR1, NTRK1, WNK1, GJB1
20serine449.0NTRK1, DNMT1, NGFR, WNK1, IKBKAP, GJB1

GO Terms for genes affiliated with Hereditary Sensory Neuropathy

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1serine C-palmitoyltransferase complexGO:01705910.1SPTLC2, SPTLC1
2voltage-gated sodium channel complexGO:0015189.7SCN11A, SCN9A, SCN10A

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

idNameGO IDScoreTop Affiliating Genes
1sphinganine biosynthetic processGO:04651110.2SPTLC2, SPTLC1
2sphingomyelin biosynthetic processGO:00668610.1SPTLC2, SPTLC1
3ceramide biosynthetic processGO:04651310.1SPTLC2, SPTLC1
4sphingosine biosynthetic processGO:04651210.0SPTLC1, SPTLC2
5sodium ion transportGO:0068149.7SCN11A, SCN9A, SCN10A

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

idNameGO IDScoreTop Affiliating Genes
1nerve growth factor bindingGO:04840610.0NGFR, NTRK1
2voltage-gated sodium channel activityGO:0052489.9SCN11A, SCN9A, SCN10A
3serine C-palmitoyltransferase activityGO:0047589.8SPTLC2, SPTLC1

Products for genes affiliated with Hereditary Sensory Neuropathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Sensory Neuropathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet