CIP
MCID: HRD021
MIFTS: 58

Hereditary Sensory Neuropathy (CIP) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Hereditary Sensory Neuropathy

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OMIM:46 Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain...243000 more...

MalaCards based summary: Hereditary Sensory Neuropathy, also known as congenital insensitivity to pain, is related to neuropathy and dnmt1-related dementia, deafness, and sensory neuropathy, and has symptoms including autosomal recessive inheritance, anosmia and painless fractures due to injury. 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 bone, spinal cord and brain, and related mouse phenotypes are behavior/neurological and integument.

Wikipedia:64 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

Descriptions from OMIM:46 608088, 613640, 614213, 201300, 613115 614653, 310470, 162400, 256800, 615548, 613708, 256860, 615632, 614116, 608654 more

Aliases & Classifications for Hereditary Sensory Neuropathy

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Sources:
9Disease Ontology, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Hereditary Sensory Neuropathy, Aliases & Descriptions:

Name: Hereditary Sensory Neuropathy 9
Congenital Insensitivity to Pain 9 22
Asymbolia for Pain 22 61
Channelopathy-Associated Congenital Insensitivity to Pain 48
Indifference to Pain, Congenital, Autosomal Recessive 22
Insensitivity to Pain, Channelopathy-Associated 46
Channelopathy-Associated Insensitivity to Pain 22
Hereditary Sensory and Autonomic Neuropathies 61
Hereditary Sensory and Autonomic Neuropathy 9
 
Congenital Indifference to Pain 22
Pain Insensitivity, Congenital 22
Sensory Neuropathy, Hereditary 61
Familial Dysautonomia, Type Ii 9
Sensory Neuropathy Hereditary 44
Congenital Pain Indifference 22
Congenital Analgesia 22
Cip 22


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
channelopathy-associated congenital insensitivity to pain:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000


External Ids:

Disease Ontology9 DOID:0050548
MESH via Orphanet35 D000699, D009477
ICD10 via Orphanet27 G60.8
UMLS via Orphanet62 C0002768, C0020075

Related Diseases for Hereditary Sensory Neuropathy

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Diseases in the Hereditary Sensory Neuropathy family:

Hereditary Sensory Neuropathy Type Ia 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.1SCN9A
2dnmt1-related dementia, deafness, and sensory neuropathy31.5SPTLC1, SPTLC2
3paroxysmal extreme pain disorder30.6SCN9A
4erythromelalgia30.5SCN9A
5autonomic neuropathy11.2
6hereditary sensory and autonomic neuropathy type v11.0
7congenital insensitivity to pain with anhidrosis10.9
8hereditary sensory and autonomic neuropathy type vi10.7
9x-linked hereditary sensory and autonomic neuropathy with deafness10.6
10sensory neuropathy type 110.6
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
16congenital indifference to pain, autosomal recessive10.5
17hereditary sensory neuropathy type ia10.5
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
23dementia10.5
24paraplegia10.5
25hereditary sensory neuropathy type id10.5
26dystonia10.4
27keratitis10.4
28congenital insensitivity to pain with hyperhidrosis10.4
29arthropathy10.3
30amyloid neuropathy10.3
31hansen's disease10.3
32critical illness polyneuropathy10.3
33charcot-marie-tooth disease10.3
34riley-day syndrome10.3
35anhidrosis10.3
36leprosy10.3
37tooth disease10.3
38myopathy of critical illness10.3
39shwachman-diamond syndrome10.2
40herpes zoster10.2
41orbital cellulitis10.2
42cellulitis10.2
43corneal ulcer10.2
44keratoderma10.2
45mental retardation10.2
46septic shock10.2
47arthritis10.2
48hereditary spastic paraplegia10.2
49muscular atrophy10.2
50neuronitis10.2

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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Symptoms by clinical synopsis from OMIM:

243000

Clinical features from OMIM:

608088, 613640, 614213, 201300, 613115, 614653, 310470, 162400, 256800, 615548 613708, 256860, 615632, 614116, 608654, 243000 more

HPO human phenotypes related to Hereditary Sensory Neuropathy:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 anosmia HP:0000458
3 painless fractures due to injury HP:0002661
4 infantile onset HP:0003593
5 hyposmia HP:0004409
6 pain insensitivity HP:0007021

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:

32
Bone, Spinal cord, 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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6SPTLC1, SCN11A, SCN9A, SCN10A, KIF1A, ATL1
2MP:00107717.5SCN11A, SCN10A, FOXE1, KIF1A, SPTLC2, SCN9A
3MP:00036317.4KIF1A, WNK1, SCN11A, SCN9A, SCN10A, SPTLC1
4MP:00107687.3SPTLC2, SPTLC1, SCN9A, WNK1, FOXE1, KIF1A

Publications for Hereditary Sensory Neuropathy

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Articles related to Hereditary Sensory Neuropathy:

(show top 50)    (show all 103)
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
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. (10636124)
2000
20
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. (11003785)
2000
21
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. (10232753)
1999
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
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
24
Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1--&gt;q22.3: exclusion of GAS1 and XPA. (9371409)
1997
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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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Sensory Neuropathy:

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

Clinvar genetic disease variations for Hereditary Sensory Neuropathy:

7
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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Expression patterns in normal tissues for genes affiliated with Hereditary Sensory Neuropathy

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Pathways for genes affiliated with Hereditary Sensory Neuropathy

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Compounds for genes affiliated with Hereditary Sensory Neuropathy

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1batrachotoxin2910.0SCN9A, SCN10A
2lidocaine44 29 1212.0SCN9A, SCN10A
3zonisamide44 50 1211.9SCN11A, SCN9A
4cocaine44 1210.8SCN11A, SCN10A
5phrixotoxin 3609.7SCN10A, SCN11A, SCN9A
6qx 314 chloride609.7SCN10A, SCN9A, SCN11A
7tetrodotoxin citrate609.7SCN10A, SCN9A, SCN11A
8veratridine44 60 2911.7SCN10A, SCN9A, SCN11A
9tetrodotoxin44 60 2911.7SCN10A, SCN11A, SCN9A
10l-serine60 29 25 1212.6SPTLC1, SPTLC2
113-Dehydrosphinganine259.6SPTLC2, SPTLC1
12Pyridoxal 5'-phosphate259.5SPTLC2, SPTLC1
13Coenzyme A25 1210.4SPTLC2, SPTLC1
14carbon dioxide44 2510.3SPTLC2, SPTLC1
15Palmityl-CoA259.1SPTLC1, SPTLC2
16sodium44 259.7SCN11A, FOXE1, WNK1, SCN10A, SCN9A

GO Terms for genes affiliated with Hereditary Sensory Neuropathy

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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:0170599.1SPTLC1, SPTLC2
4endoplasmic reticulum membraneGO:0057898.9SPTLC1, ATL1, 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:0068149.6SCN10A, SCN9A, SCN11A
3sodium ion transmembrane transportGO:0357259.5SCN9A, SCN10A, SCN11A
4sphingomyelin biosynthetic processGO:0066869.5SPTLC2, SPTLC1
5sphingosine biosynthetic processGO:0465129.4SPTLC2, SPTLC1
6sphingolipid metabolic processGO:0066659.4SPTLC2, SPTLC1
7ceramide biosynthetic processGO:0465139.3SPTLC1, SPTLC2
8sphingolipid biosynthetic processGO:0301489.1SPTLC2, SPTLC1

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet