CIP
MCID: HRD021
MIFTS: 49

Hereditary Sensory Neuropathy (CIP) malady

Neuronal category

Summaries for Hereditary Sensory Neuropathy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 hereditary sensory and autonomic type 1 and sensory peripheral neuropathy. 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. Related mouse phenotypes are integument and growth/size.

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

Aliases & Classifications for Hereditary Sensory Neuropathy

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


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 61
hereditary sensory and autonomic neuropathy 8
congenital indifference to pain 21
pain insensitivity, congenital 21
sensory neuropathy, hereditary 61
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 Orphanet62 C0002768, C0020075
MESH via Orphanet36 D000699, D009477
ICD10 via Orphanet26 G60.8
SNOMED-CT via Orphanet58 128206006, 403605007

Related Diseases for Hereditary Sensory Neuropathy

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
neuropathy, hereditary sensory, with spastic paraplegia

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy hereditary sensory and autonomic type 131.1SPTLC2, SPTLC1
2sensory peripheral neuropathy30.4NTRK1, GJB1, SPTLC1
3anhidrosis30.4NGFR, NTRK1
4autonomic neuropathy30.2IKBKAP, NTRK1
5riley-day syndrome30.2NTRK1, IKBKAP
6hereditary sensory and autonomic neuropathy type v10.9
7hereditary sensory and autonomic neuropathy iv10.8
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
16hereditary neuropathies10.5
17congenital indifference to pain, autosomal recessive10.5
18pain disorder10.5
19hereditary sensory neuropathy type id10.5
20hereditary sensory and autonomic neuropathy type iic10.5
21neuropathy, hereditary sensory, with spastic paraplegia10.5
22hereditary spastic paraplegia10.4
23neuropathy sensory spastic paraplegia10.4
24hereditary sensory neuropathy type ia10.4
25keratitis, hereditary10.4
26paroxysmal extreme pain disorder10.4
27critical illness polyneuropathy10.4
28congenital insensitivity to pain with hyperhidrosis10.3
29myopathy of critical illness10.3
30axonal neuropathy10.3
31autonomic peripheral neuropathy10.3
32arthropathy10.3
33amyloid neuropathy10.3
34hansen's disease10.3
35n syndrome10.3
36tooth disease10.3
37charcot-marie-tooth hereditary neuropathy10.3
38hereditary ataxia10.3
39ataxia10.3
40orbital cellulitis10.2
41cellulitis10.2
42herpes zoster10.2
43shwachman-diamond syndrome10.2
44bod syndrome10.2
45pyruvate kinase deficiency10.2
46keratoderma10.2
47mental retardation10.2
48septic shock10.2
49friedreich ataxia10.1
50motor peripheral neuropathy10.1

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



Diseases related to hereditary sensory neuropathy

Clinical Features for Hereditary Sensory Neuropathy

Sources:
47OMIM
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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Hereditary Sensory Neuropathy

Animal Models for Hereditary Sensory Neuropathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3FOXE1, SCN9A, SCN11A, GABBR1, NTRK1, NGFR
2MP:00053788.2KIF1A, GJB1, IKBKAP, WNK1, NGFR, DNMT1
3MP:00053868.0SPTLC1, SCN11A, GABBR1, ATL1, DNMT1, NGFR
4MP:00036317.8SCN11A, GJB1, IKBKAP, WNK1, NGFR, DNMT1
5MP:00107687.6SPTLC1, GJB1, SCN9A, GABBR1, SPTLC2, NTRK1

Publications for Hereditary Sensory Neuropathy

Sources:
51PubMed
See all sources

Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 242)
idTitleAuthorsYear
1
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. (24381311)
2014
2
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. (23658386)
2013
3
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. (24327336)
2013
4
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. (23521649)
2013
5
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
6
Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia? (22140130)
2012
7
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. (21762444)
2011
8
Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV. (21655028)
2011
9
In vitro receptor binding properties of a &quot;painless&quot; NGF mutein, linked to hereditary sensory autonomic neuropathy type V. (19945432)
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
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. (18957892)
2008
12
In vivo confocal microscopy of hereditary sensory and autonomic neuropathy. (19085376)
2008
13
Hereditary sensory and autonomic neuropathy type IV. (18705260)
2008
14
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. (18090092)
2007
15
Hereditary motor and sensory Lom-neuropathy--first Hungarian case report]. (17432095)
2007
16
New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. (16636245)
2006
17
A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration. (16836519)
2006
18
Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV. (15695606)
2005
19
Electromyographic mixed nerve and cutaneous silent period in evaluating the A-delta fibres in a patient with hereditary sensory-autonomic neuropathy. (12086110)
2002
20
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. (10636124)
2000
21
Hereditary sensory and autonomic neuropathy: review and a case report with dental implications. (10672155)
2000
22
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
23
Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. (10025779)
1999
24
Autonomic function in patients with hereditary motor and sensory neuropathy type I and Lambert-Eaton myasthenic syndrome. (10499205)
1999
25
Hereditary motor and sensory neuropathy mimicking hansen's disease. (20948037)
1996
26
Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)]. (8752423)
1995
27
A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation. (8777804)
1995
28
Hereditary Sensory and Autonomic Neuropathy Type II (21089229)
1993
29
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. (8429311)
1993
30
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). (8492918)
1993
31
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). (7506095)
1993
32
De-novo mutation in hereditary motor and sensory neuropathy type I. (1349106)
1992
33
Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). (1596093)
1992
34
Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report. (2291397)
1990
35
Hereditary sensory neuropathy type II without trophic changes. (2338180)
1990
36
End-plates, transmission and contractile characteristics of muscles without spindles in the hereditary sensory neuropathy of the Sprawling mouse. (2168780)
1990
37
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. (2797453)
1989
38
Fine structural study of the spinal cord and spinal ganglia in mice afflicted with a hereditary sensory neuropathy, dystonia musculorum. (2804958)
1989
39
Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. (2747736)
1989
40
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. (2976839)
1988
41
Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. (3479531)
1987
42
Children with reduced sensitivity to pain: assessment of hereditary sensory neuropathy types II and IV. (6185383)
1982
43
Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. (6161237)
1980
44
Hereditary sensory neuropathy with anhidrosis. A new family with a study of the sensory conduction velocity. (92176)
1978
45
A new variety of hereditary sensory neuropathy. (191348)
1977
46
Recessive hereditary sensory neuropathy. (185339)
1976
47
Genetic heterogeneity of hereditary sensory neuropathy. (4361393)
1974
48
Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. (4351257)
1973
49
Ulcero-mutilating acropathy, hereditary sensory neuropathy and signs of Friedreich heredo-ataxia in two brothers. (5556920)
1971
50
Hereditary sensory neuropathy. (13235976)
1955

Genetic Variations for Hereditary Sensory Neuropathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hereditary Sensory Neuropathy:

63
id Symbol AA change Variation SNP ID
1SCN9Ap.Arg907GlnVAR_064610

Expression for genes affiliated with Hereditary Sensory Neuropathy

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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN
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

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
See all sources

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1Lacosamide1110.5SCN9A, SCN10A
2phrixotoxin 36010.3SCN11A, SCN10A, SCN9A
3qx 314 chloride6010.3SCN10A, SCN9A, SCN11A
4tetrodotoxin citrate6010.3SCN10A, SCN9A, SCN11A
5veratridine45 60 2912.3SCN10A, SCN9A, SCN11A
6batrachotoxin2910.3SCN9A, SCN10A
7ana 126010.2NTRK1, NGFR
8tlqp 216010.2NTRK1, NGFR
9bdnf (human)6010.2NTRK1, NGFR
10procaine45 29 1112.2DNMT1, SCN10A
11gnf 58376010.2NTRK1, NGFR
127,8-dihydroxyflavone45 6011.1NGFR, NTRK1
13tetrodotoxin45 60 2912.1SCN10A, SCN9A, SCN11A
14cocaine45 1110.9GABBR1, SCN11A, SCN10A
15ceramide459.9NTRK1, NGFR, SPTLC1, SPTLC2
16l-serine29 60 11 2412.8SPTLC2, SPTLC1
17sodium45 2410.7FOXE1, SCN10A, SCN9A, SCN11A, NTRK1, WNK1
18catecholamine459.7NGFR, NTRK1, GABBR1
19potassium45 11 2411.4GABBR1, NTRK1, WNK1, GJB1
20serine459.0NTRK1, DNMT1, NGFR, WNK1, IKBKAP, GJB1

GO Terms for genes affiliated with Hereditary Sensory Neuropathy

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

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  • Lysates
  • Antibodies

Sources for Hereditary Sensory Neuropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet