HSAN5
MCID: HRD082
MIFTS: 40

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

Genetic diseases, Neuronal diseases, Rare diseases, Gastrointestinal diseases categories

Summaries for Hereditary Sensory and Autonomic Neuropathy Type V

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Hereditary Sensory and Autonomic Neuropathy Type V, also known as hsan type v, is related to anhidrosis and hereditary sensory neuropathy. An important gene associated with Hereditary Sensory and Autonomic Neuropathy Type V is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1), 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.

Description from OMIM:48 608654

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type V

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22Genetics Home Reference, 21GeneTests, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hsan5:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary sensory and autonomic neuropathy type v 21 22
hsan type v 22 46
hsan5 22 50
congenital sensory neuropathy with selective loss of small myelinated fibers 22
congenital insensitivity to pain and thermal analgesia 50
neuropathy, hereditary sensory and autonomic, type v 48
hereditary sensory and autonomic neuropathy, type 5 22
hereditary sensory and autonomic neuropathy type 5 50
hereditary sensory autonomic neuropathy, type 5 63
congenital insensitivity to pain 22
hsan v 22


External Ids:

OMIM48 608654
MESH via Orphanet37 D000699
ICD10 via Orphanet27 G60.8
SNOMED-CT via Orphanet60 128206006
UMLS via Orphanet64 C0002768, C0020075

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type V

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18GeneCards, 19GeneDecks
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Diseases in the Hereditary Sensory and Autonomic Neuropathy Type Ii family:

hereditary sensory and autonomic neuropathy type v Hereditary Sensory and Autonomic Neuropathy Type Ic
Hereditary Sensory and Autonomic Neuropathy Type Vi Hereditary Sensory and Autonomic Neuropathy Type Iia
Hereditary Sensory and Autonomic Neuropathy Type Iib Hereditary Sensory and Autonomic Neuropathy Type Iic
Neuropathy, Hereditary Sensory and Autonomic, Type Vii Neuropathy, Hereditary Sensory and Autonomic, Type Ia
Hereditary Sensory and Autonomic Neuropathy Type 1b

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1anhidrosis31.8NTRK1, NGF
2hereditary sensory neuropathy31.1NTRK1, NGF
3autonomic neuropathy31.1NTRK1, NGF
4mental retardation30.3NTRK1, NGF
5congenital insensitivity to pain with anhidrosis11.2
6neuropathy10.8
7congenital insensitivity to pain with hyperhidrosis10.4
8erythromelalgia10.2
9neuronitis10.2
10herpes zoster10.2
11orbital cellulitis10.2
12arthritis10.2
13arthropathy10.2
14cellulitis10.2
15corneal ulcer10.2
16keratitis10.2
17leprosy10.2
18osteomyelitis10.2
19shwachman-diamond syndrome10.2
20pyruvate kinase deficiency10.2
21keratoderma10.2
22paroxysmal extreme pain disorder10.2
23neuropathy, hereditary sensory and autonomic, type vii10.2
24septic shock10.2
25neuropathy, hereditary sensory and autonomic, type ia10.1
26neuroaxonal dystrophy10.0NTRK1, NGF
27diabetic neuropathy10.0NGF, NTRK1
28sensory peripheral neuropathy10.0NTRK1, NGF
29rett syndrome10.0NTRK1, NGF
30ganglioneuroma10.0NGF, NTRK1
31prion disease10.0NTRK1, NGF
32allergic asthma10.0NGF, NTRK1
33medulloblastoma10.0NGF, NTRK1
34neuroblastoma10.0NTRK1, NGF
35cholera10.0NTRK1, NGF
36amyotrophic lateral sclerosis10.0NGF, NTRK1
37pheochromocytoma10.0NTRK1, NGF
38parkinson's disease10.0NTRK1, NGF
39astrocytoma10.0NTRK1, NGF
40osteosarcoma10.0NGF, NTRK1
41schizophrenia10.0NTRK1, NGF
42breast cancer10.0NTRK1, NGF
43alzheimer's disease10.0NTRK1, NGF
44malignant glioma10.0NTRK1, NGF
45colon cancer9.9NTRK1, NGF

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



Diseases related to hereditary sensory and autonomic neuropathy type v

Symptoms for Hereditary Sensory and Autonomic Neuropathy Type V

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608654

Clinical features from OMIM:

608654

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Type V

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Sensory and Autonomic Neuropathy Type V

Drug clinical trials:

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

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Genetic Tests for Hereditary Sensory and Autonomic Neuropathy Type V

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21GeneTests
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Genetic tests related to Hereditary Sensory and Autonomic Neuropathy Type V:

id Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type V21 NGF

Anatomical Context for Hereditary Sensory and Autonomic Neuropathy Type V

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

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Publications for Hereditary Sensory and Autonomic Neuropathy Type V

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53PubMed
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Articles related to Hereditary Sensory and Autonomic Neuropathy Type V:

idTitleAuthorsYear
1
Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy type V): a rare case report. (18647521)
2008
2
Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation. (18498365)
2008
3
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. (12210794)
2002
4
A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. (11310631)
2001

Variations for Hereditary Sensory and Autonomic Neuropathy Type V

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type V:

65
id Symbol AA change Variation ID SNP ID
1NGFp.Arg221TrpVAR_030659rs11466112

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

1
id Gene Name 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

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Type V

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

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

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51PathCards, 61Thomson Reuters, 31KEGG, 5Cell Signaling Technology, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
9.1NTRK1, NGF
29.1NTRK1, NGF
3
Show member pathways
9.1NGF, NTRK1
4
Show member pathways
9.1NTRK1, NGF
5
Show member pathways
9.1NTRK1, NGF
6
Show member pathways
MAPK signaling pathway39
9.1NTRK1, NGF
7
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1NGF, NTRK1
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.1NTRK1, NGF
9
Show member pathways
9.1NTRK1, NGF
10
Show member pathways
9.1NTRK1, NGF
11
Show member pathways
9.1NGF, NTRK1
12
Show member pathways
9.1NTRK1, NGF
139.1NTRK1, NGF
14
Show member pathways
9.1NTRK1, NGF

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

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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 12DrugBank, 25HMDB, 3BitterDB
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Compounds related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1cipa469.6NTRK1, NGF
2ag 879469.5NTRK1, NGF
3ana 12629.5NGF, NTRK1
4tlqp 21629.5NGF, NTRK1
5bdnf (human)629.5NGF, NTRK1
6gnf 5837629.5NGF, NTRK1
77,8-dihydroxyflavone62 4610.5NGF, NTRK1
8propentofylline469.5NTRK1, NGF
9kt 582346 3010.5NTRK1, NGF
10k252a469.5NGF, NTRK1
11capsaicin46 3010.5NTRK1, NGF
12c2ceramide469.5NTRK1, NGF
13ganglioside469.5NGF, NTRK1
14cytarabine46 52 1211.5NTRK1, NGF
15choline46 25 1211.5NGF, NTRK1
16ceramide469.5NTRK1, NGF
17aspirin46 52 30 2512.5NTRK1, NGF
18gnrh469.5NGF, NTRK1
19matrigel469.5NTRK1, NGF
20phosphotyrosine469.5NGF, NTRK1
2112-o-tetradecanoylphorbol 13-acetate469.5NTRK1, NGF
22acetylcholine46 52 30 25 1213.4NTRK1, NGF
23pd 98,059469.4NGF, NTRK1
24ly294002469.4NTRK1, NGF
25wortmannin469.4NGF, NTRK1
26phosphoinositide469.4NTRK1, NGF
27genistein46 30 62 3 25 1214.4NTRK1, NGF
28dopamine46 30 25 1212.4NTRK1, NGF
29creatinine469.4NGF, NTRK1
30adenylate469.3NTRK1, NGF
31cyclic amp46 2510.3NTRK1, NGF
32cycloheximide469.3NGF, NTRK1
33testosterone46 62 25 1212.2NTRK1, NGF
34vegf469.2NGF, NTRK1
35phosphatidylinositol469.1NTRK1, NGF
36alanine469.1NTRK1, NGF
37threonine469.0NTRK1, NGF
38glutamate468.8NTRK1, NGF

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

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17Gene Ontology
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Cellular components related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.1NTRK1, NGF

Biological processes related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulusGO:0516029.4NTRK1, NGF
2response to radiationGO:0093149.4NTRK1, NGF
3activation of MAPKK activityGO:0001869.3NGF, NTRK1
4activation of phospholipase C activityGO:0072029.3NTRK1, NGF
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.3NTRK1, NGF
6Ras protein signal transductionGO:0072659.2NGF, NTRK1
7negative regulation of neuron apoptotic processGO:0435249.2NTRK1, NGF
8phosphatidylinositol-mediated signalingGO:0480159.1NTRK1, NGF
9small GTPase mediated signal transductionGO:0072649.1NTRK1, NGF
10neurotrophin TRK receptor signaling pathwayGO:0480119.0NGF, NTRK1
11response to drugGO:0424938.8NTRK1, NGF

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

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Sources for Hereditary Sensory and Autonomic Neuropathy Type V

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet