MCID: NRP037
MIFTS: 47

Neuropathy, Hereditary Sensory and Autonomic, Type V malady

Genetic diseases, Neuronal diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Fetal diseases categories

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

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OMIM:45 Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain... (243000) more...

MalaCards based summary: Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as indifference to pain, congenital, autosomal recessive, is related to anhidrosis and autonomic neuropathy, and has symptoms including intellectual disability, mild, episodic fever and autosomal recessive inheritance. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are Development Endothelin 1 EDNRA signaling and Neuroscience. The compounds cipa and ag 879 have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are integument and nervous system.

Genetics Home Reference:21 Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.

Description from OMIM:45 608654

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Neuropathy, Hereditary Sensory and Autonomic, Type V, Aliases & Descriptions:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type V 45 10 20
Indifference to Pain, Congenital, Autosomal Recessive 45 20 22
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 21 22
Hsan Type V 21 43
Hsan5 21 47
Congenital Insensitivity to Pain and Thermal Analgesia 47
Hereditary Sensory and Autonomic Neuropathy, Type 5 21
Hereditary Sensory and Autonomic Neuropathy Type 5 47
 
Hereditary Sensory and Autonomic Neuropathy Type V 21
Hereditary Sensory Autonomic Neuropathy, Type 5 60
Insensitivity to Pain, Channelopathy-Associated 10
Insensitivity to Pain, Congenital 45
Congenital Insensitivity to Pain 21
Hsan2d, Autosomal Recessive 45
Hsan V 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
hsan5:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 64752
MESH via Orphanet34 D000699
ICD10 via Orphanet26 G60.8
UMLS via Orphanet61 C0002768, C0020075

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Ii family:

neuropathy, hereditary sensory and autonomic, type v Neuropathy, Hereditary Sensory and Autonomic, Type Vii
Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Vi
Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Ic
Hereditary Sensory and Autonomic Neuropathy Type Iic

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1anhidrosis31.9NTRK1, NGF
2autonomic neuropathy31.3NTRK1, NGF
3neuropathy31.2NGF, SCN9A
4hereditary sensory neuropathy31.1NTRK1, NGF
5mental retardation30.2NTRK1, NGF
6insensitivity to pain, congenital, with anhidrosis10.6
7congenital insensitivity to pain with hyperhidrosis10.5
8channelopathy-associated congenital insensitivity to pain10.4
9paroxysmal extreme pain disorder10.2
10neuropathy, hereditary sensory and autonomic, type vii10.2
11pyruvate kinase deficiency10.2
12leprosy10.2
13keratitis10.2
14arthritis10.2
15erythromelalgia10.2
16neuronitis10.2
17herpes zoster10.2
18orbital cellulitis10.2
19arthropathy10.2
20cellulitis10.2
21corneal ulcer10.2
22osteomyelitis10.2
23keratoderma10.2
24neuropathy, hereditary sensory and autonomic, type ia10.1
25neuroaxonal dystrophy10.0NTRK1, NGF
26diabetic neuropathy10.0NTRK1, NGF
27rett syndrome10.0NGF, NTRK1
28sensory peripheral neuropathy10.0NGF, NTRK1
29ganglioneuroma10.0NTRK1, NGF
30prion disease10.0NTRK1, NGF
31allergic asthma10.0NTRK1, NGF
32pain disorder10.0NGF, SCN9A
33medulloblastoma10.0NTRK1, NGF
34neuroblastoma10.0NGF, NTRK1
35cholera9.9NTRK1, NGF
36amyotrophic lateral sclerosis 19.9NTRK1, NGF
37pheochromocytoma9.9NGF, NTRK1
38parkinson disease, late-onset9.9NGF, NTRK1
39schizophrenia9.9NTRK1, NGF
40astrocytoma9.8NTRK1, NGF
41osteosarcoma, somatic9.7NTRK1, NGF

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V:



Diseases related to neuropathy, hereditary sensory and autonomic, type v

Symptoms for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Symptoms by clinical synopsis from OMIM:

243000

Clinical features from OMIM:

608654,243000

HPO human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

(show all 13)
id Description Frequency HPO Source Accession
1 intellectual disability, mild rare (5%) HP:0001256
2 episodic fever rare (5%) HP:0001954
3 autosomal recessive inheritance HP:0000007
4 anosmia HP:0000458
5 painless fractures due to injury HP:0002661
6 infantile onset HP:0003593
7 hyposmia HP:0004409
8 pain insensitivity HP:0007021
9 self-mutilation HP:0000742
10 anhidrosis HP:0000970
11 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
12 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) HP:0001862
13 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Drug clinical trials:

Search ClinicalTrials for Neuropathy, Hereditary Sensory and Autonomic, Type V

Search NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

id Genetic test Affiliating Genes
1 Congenital Indifference to Pain, Autosomal Recessive20 SCN9A
2 Hereditary Sensory and Autonomic Neuropathy Type V20 NGF
3 Indifference to Pain, Congenital, Autosomal Recessive22
4 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers22

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type V

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MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

31
Bone

Animal Models for Neuropathy, Hereditary Sensory and Autonomic, Type V or affiliated genes

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MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5NTRK1, SCN9A, NGF
2MP:00036318.5NTRK1, SCN9A, NGF
3MP:00028738.4NTRK1, SCN9A, NGF
4MP:00053868.2NGF, SCN9A, NTRK1

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

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Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type V:

62
id Symbol AA change Variation ID SNP ID
1NGFp.Arg221TrpVAR_030659rs11466112
2SCN9Ap.Arg907GlnVAR_064610

Clinvar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type V:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NGFNM_002506.2(NGF): c.661C> T (p.Arg221Trp)single nucleotide variantPathogenicrs11466112GRCh37Chr 1, 115828756: 115828756
2NGFNGFB, 680C-A AND 2-BP DEL, 681GGdeletionPathogenic
3NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenic, Pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
4NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter)single nucleotide variantPathogenicrs121908908GRCh37Chr 2, 167143072: 167143072
5SCN9ASCN9A, 1-BP DEL, 2298TdeletionPathogenic
6NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter)single nucleotide variantPathogenicrs121908909GRCh37Chr 2, 167133643: 167133643
7SCN9ANM_002977.3(SCN9A): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs121908916GRCh37Chr 2, 167159672: 167159672
8NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter)single nucleotide variantPathogenicrs121908917GRCh37Chr 2, 167149864: 167149864

Expression for genes affiliated with Neuropathy, Hereditary Sensory and Autonomic, Type V

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Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type V.

Pathways for genes affiliated with Neuropathy, Hereditary Sensory and Autonomic, Type V

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Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1NTRK1, NGF
29.1NTRK1, NGF
3
Show member pathways
9.1NGF, NTRK1
4
Show member pathways
9.1NGF, NTRK1
5
Show member pathways
9.1NGF, NTRK1
6
Show member pathways
MAPK signaling pathway36
9.1NTRK1, NGF
7
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.1NGF, NTRK1
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1NTRK1, NGF
9
Show member pathways
9.1NGF, NTRK1
10
Show member pathways
9.1NTRK1, NGF
11
Show member pathways
9.1NTRK1, NGF
12
Show member pathways
9.1NTRK1, NGF
139.1NGF, NTRK1
14
Show member pathways
9.1NGF, NTRK1

Compounds for genes affiliated with Neuropathy, Hereditary Sensory and Autonomic, Type V

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Compounds related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1cipa439.5NTRK1, NGF
2ag 879439.5NTRK1, NGF
3ana 12599.5NGF, NTRK1
4tlqp 21599.5NGF, NTRK1
5bdnf (human)599.5NGF, NTRK1
6gnf 5837599.5NGF, NTRK1
77,8-dihydroxyflavone59 4310.5NTRK1, NGF
8propentofylline439.5NGF, NTRK1
9kt 582343 2810.5NTRK1, NGF
10k252a439.5NTRK1, NGF
11capsaicin43 2810.5NGF, NTRK1
12c2ceramide439.5NTRK1, NGF
13ganglioside439.5NTRK1, NGF
14cytarabine43 49 1211.4NTRK1, NGF
15choline43 24 1211.4NGF, NTRK1
16ceramide439.4NTRK1, NGF
17aspirin43 49 28 2412.4NTRK1, NGF
18gnrh439.4NTRK1, NGF
19matrigel439.4NGF, NTRK1
20lidocaine43 28 1211.4SCN9A, NGF
21phosphotyrosine439.4NTRK1, NGF
2212-o-tetradecanoylphorbol 13-acetate439.4NTRK1, NGF
23acetylcholine43 49 28 24 1213.3NTRK1, NGF
24pd 98,059439.3NGF, NTRK1
25ly294002439.3NTRK1, NGF
26wortmannin439.2NTRK1, NGF
27phosphoinositide439.2NTRK1, NGF
28genistein43 28 59 2 24 1214.1NGF, NTRK1
29creatinine439.1NTRK1, NGF
30dopamine43 28 24 1212.0NTRK1, NGF
31sodium43 2410.0NTRK1, SCN9A

GO Terms for genes affiliated with Neuropathy, Hereditary Sensory and Autonomic, Type V

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Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.1NTRK1, NGF

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulusGO:00516029.4NGF, NTRK1
2response to radiationGO:00093149.4NGF, NTRK1
3activation of MAPKK activityGO:00001869.4NTRK1, NGF
4activation of phospholipase C activityGO:00072029.3NTRK1, NGF
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.3NTRK1, NGF
6Ras protein signal transductionGO:00072659.3NTRK1, NGF
7negative regulation of neuron apoptotic processGO:00435249.2NTRK1, NGF
8phosphatidylinositol-mediated signalingGO:00480159.2NGF, NTRK1
9neurotrophin TRK receptor signaling pathwayGO:00480119.1NGF, NTRK1
10small GTPase mediated signal transductionGO:00072649.1NTRK1, NGF
11response to drugGO:00424939.0NTRK1, NGF
12inflammatory responseGO:00069548.7SCN9A, NGF

Products for genes affiliated with Neuropathy, Hereditary Sensory and Autonomic, Type V

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Sources for Neuropathy, Hereditary Sensory and Autonomic, Type V

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet