CIP
MCID: HRD021
MIFTS: 58

Hereditary Sensory Neuropathy (CIP) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Sensory Neuropathy

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63Wikipedia, 46OMIM, 32MalaCards
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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 skin, spinal cord and testes, 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

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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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

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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 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

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46OMIM
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

243000

Drugs & Therapeutics for Hereditary Sensory Neuropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Hereditary Sensory Neuropathy

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32MalaCards
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MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

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

Animal Models for Hereditary Sensory Neuropathy or affiliated genes

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36MGI
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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

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50PubMed
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Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 252)
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
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. (24327336)
2013
3
Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. (23011429)
2012
4
Mutation in FAM134B causing severe hereditary sensory neuropathy. (21115472)
2012
5
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. (21762444)
2011
6
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. (21618344)
2011
7
In vitro receptor binding properties of a &quot;painless&quot; NGF mutein, linked to hereditary sensory autonomic neuropathy type V. (19945432)
2010
8
Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV. (19098654)
2009
9
Hereditary sensory neuropathy type I. (18348718)
2008
10
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. (18957892)
2008
11
In vivo confocal microscopy of hereditary sensory and autonomic neuropathy. (19085376)
2008
12
New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. (16636245)
2006
13
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. (16534117)
2006
14
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. (16373086)
2006
15
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
16
Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom. (15474366)
2004
17
Ultrastructural and immunohistochemical similarities of two distinct entities; multiple sclerosis and hereditary motor sensory neuropathy. (15530551)
2004
18
Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. (15337262)
2004
19
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. (12870133)
2003
20
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
21
Superior mesenteric artery syndrome associated with hereditary motor and sensory neuropathy type II--a case report. (11842652)
2001
22
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. (11242106)
2001
23
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. (11703329)
2001
24
Hereditary sensory and autonomic neuropathy: review and a case report with dental implications. (10672155)
2000
25
Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. (10891921)
2000
26
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. (10232753)
1999
27
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
28
Dysphagia in hereditary sensory autonomic neuropathy type IV. (10555429)
1999
29
A case of a hereditary, late progressing sensory autonomic neuropathy. (9496534)
1998
30
Indeterminate hansen's disease in a patient with hereditary sensory and autonomic neuropathy. (20948131)
1996
31
Oral and maxillofacial manifestations of hereditary sensory neuropathy. (8909740)
1996
32
A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation. (8777804)
1995
33
Hereditary sensory neuropathy manifesting as possible child abuse. (8165095)
1994
34
Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. (7922454)
1994
35
Hereditary Sensory and Autonomic Neuropathy Type II (21089229)
1993
36
Hereditary Sensory Neuropathy Type IA (20301564)
1993
37
De-novo mutation in hereditary motor and sensory neuropathy type I. (1349106)
1992
38
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
39
Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X-linked inheritance. (1544211)
1992
40
Hereditary sensory neuropathy: type II. (2246048)
1990
41
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. (2375632)
1990
42
Hereditary sensory neuropathy with deafness: a familial multisystem atrophy. (2915797)
1989
43
The clinical spectrum and morphology of type II hereditary sensory neuropathy. (6958343)
1982
44
Children with reduced sensitivity to pain: assessment of hereditary sensory neuropathy types II and IV. (6185383)
1982
45
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. (6167137)
1981
46
Hereditary sensory neuropathy, a new type. (206509)
1978
47
Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. (4351257)
1973
48
Hereditary sensory neuropathy. A clinical and ultrastructural study. (4323167)
1970
49
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
50
Hereditary sensory neuropathy with spinal cord disease. (14032261)
1963

Genetic Variations for Hereditary Sensory Neuropathy

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 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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37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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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

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11DrugBank, 59Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
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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

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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
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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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet