HSAN5
MCID: HRD082
MIFTS: 42

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

Neuronal diseases category

Summaries for Hereditary Sensory and Autonomic Neuropathy Type V

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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.

MalaCards: Hereditary Sensory and Autonomic Neuropathy Type V, also known as hsan type v, is related to anhidrosis and 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 p75NTR signals via NF-kB and Transcriptional misregulation in cancer. The compounds cyclic amp and phorbol have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and normal.

Description from OMIM:46 608654

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type V

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21Genetics Home Reference, 20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hsan5:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary sensory and autonomic neuropathy type v 20 21
hsan type v 21 44
hsan5 21 48
congenital sensory neuropathy with selective loss of small myelinated fibers 21
congenital insensitivity to pain and thermal analgesia 48
neuropathy, hereditary sensory and autonomic, type v 46
hereditary sensory and autonomic neuropathy, type 5 21
hereditary sensory and autonomic neuropathy type 5 48
hereditary sensory autonomic neuropathy, type 5 60
congenital insensitivity to pain 21
hsan v 21
nhsa5 48


External Ids:

OMIM46 608654
MESH via Orphanet35 D000699
ICD10 via Orphanet26 G60.8
SNOMED-CT via Orphanet57 128206006
UMLS via Orphanet61 C0002768, C0020075

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type V

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Sensory and Autonomic Neuropathy Type Ii family:

Hereditary Sensory and Autonomic Neuropathy Iv Neuropathy Hereditary Sensory and Autonomic Type 1
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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1anhidrosis31.7NTRK1, NGF, NGFR
2neuropathy31.0NGF
3autonomic neuropathy31.0NTRK1, NGF
4hereditary sensory neuropathy31.0NTRK1, NGF
5hereditary sensory and autonomic neuropathy iv10.8
6pain disorder10.5
7congenital insensitivity to pain with hyperhidrosis10.3
8orbital cellulitis10.2
9cellulitis10.2
10neuronitis10.2
11erythromelalgia10.2
12herpes zoster10.2
13arthritis10.2
14arthropathy10.2
15corneal ulcer10.2
16keratitis10.2
17leprosy10.2
18osteomyelitis10.2
19shwachman-diamond syndrome10.2
20neuropathy, hereditary sensory and autonomic, type ia10.0
21ependymoma10.0NGFR
22granular cell tumor10.0NTRK1
23phaeochromocytoma10.0NGF
24chagas disease10.0NTRK1
25parkinson's disease10.0NGF
26peripheral neuropathy10.0NTRK1
27hirschsprung's disease10.0NTRK1, NGFR
28thymus cancer10.0NTRK1, NGFR
29ischemia10.0NTRK1, NGFR
30thymoma10.0NTRK1, NGFR
31retinoblastoma10.0NGFR, NGF
32prolactinoma10.0NGFR, NGF
33neuroaxonal dystrophy10.0NGF, NTRK1
34sensory peripheral neuropathy10.0NTRK1, NGF
35huntington's disease10.0NGF, NGFR
36pancreatic cancer10.0NTRK1, NGFR
37asthma10.0NGF, NGFR
38glioblastoma multiforme10.0NGFR, NGF
39rett syndrome10.0NTRK1, NGF
40prion disease10.0NTRK1, NGF
41atopic dermatitis10.0NGFR, NGF
42allergic asthma10.0NGF, NTRK1
43epilepsy syndrome10.0NGFR, NGF
44lung small cell carcinoma10.0NGFR, NTRK1
45schizophrenia10.0NTRK1, NGF
46diabetic neuropathy10.0NTRK1, NGFR, NGF
47ganglioneuroma10.0NTRK1, NGF, NGFR
48pheochromocytoma10.0NTRK1, NGF, NGFR
49medulloblastoma10.0NGF, NTRK1, NGFR
50amyotrophic lateral sclerosis10.0NTRK1, NGFR, 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

Clinical Features for Hereditary Sensory and Autonomic Neuropathy Type V

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46OMIM
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Clinical features from OMIM:

608654

Clinical synopsis from OMIM:

608654

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Type V

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

Search CenterWatch for Hereditary Sensory and Autonomic Neuropathy Type V

Drug clinical trials:

Search ClinicalTrials for Hereditary Sensory and Autonomic Neuropathy Type V

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

Search CenterWatch for Hereditary Sensory and Autonomic Neuropathy Type V

Genetic Tests for Hereditary Sensory and Autonomic Neuropathy Type V

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20GeneTests
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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 V20 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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36MGI
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MGI Mouse Phenotypes related to Hereditary Sensory and Autonomic Neuropathy Type V:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5NGF, NTRK1, NGFR
2MP:00028738.5NTRK1, NGFR, NGF
3MP:00053918.4NGFR, NGF, NTRK1
4MP:00107718.2NTRK1, NGFR, NGF

Publications for Hereditary Sensory and Autonomic Neuropathy Type V

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Genetic Variations for Hereditary Sensory and Autonomic Neuropathy Type V

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type V:

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

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

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1BioGPS, 15Gene 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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Sources:
53Reactome, 29KEGG, 51QIAGEN, 59Tocris Bioscience, 12EMD Millipore, 37NCBI BioSystems Database, 55SinoBiological, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7NGF
29.3NGFR, NTRK1
3
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9.3NGFR, NTRK1
4
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9.3NTRK1, NGFR
59.3NTRK1, NGFR
6
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9.1NGF, NGFR
7
Apoptosis and survival Apoptotic TNF-family pathways
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9.1NGF, NGFR
89.1NGFR, NGF
9
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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9.1NGF, NGFR
10
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9.1NGF, NGFR
119.1NGFR, NGF
12
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9.1NGFR, NGF
13
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9.1NGF, NGFR
149.1NGFR, NGF
15
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9.0NGF, NTRK1
16
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9.0NGF, NTRK1
17
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9.0NTRK1, NGF
18
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9.0NTRK1, NGF
19
Hide members
9.0NGF, NTRK1
20
Hide members
9.0NGF, NTRK1
21
Hide members
9.0NGF, NTRK1
22
Hide members
9.0NGF, NTRK1
238.5NGF, NGFR, NTRK1
248.5NGF, NGFR, NTRK1
25
Hide members
8.5NGF, NGFR, NTRK1
268.5NGF, NGFR, NTRK1
27
Hide members
8.5NTRK1, NGFR, NGF
288.5NTRK1, NGFR, NGF

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

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44Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1cyclic amp44 2411.2NTRK1
2phorbol4410.0NTRK1
3gnrh449.8NTRK1
4phenylalanine449.7NGFR
5estradiol valerate449.5NGFR, NGF
6catecholamine449.5NTRK1, NGFR
7acetyl-l-carnitine449.5NGFR, NGF
86 thioguanine449.5NGF, NGFR
9cipa449.4NGF, NTRK1
10ag 879449.4NGF, NTRK1
11propentofylline449.4NGF, NTRK1
12kt 582344 2810.4NGF, NTRK1
13dbc-amp449.4NGF, NGFR
14capsaicin44 2810.3NGF, NTRK1
15retinoid449.3NGFR, NTRK1
16c2ceramide449.3NGF, NTRK1
17nicotine44 49 28 1112.2NGF, NGFR
18cytarabine44 49 1111.2NGF, NTRK1
19aspirin44 49 28 2412.0NTRK1, NGF
20gnf 5837598.9NGF, NTRK1, NGFR
21ana 12598.9NTRK1, NGFR, NGF
22tlqp 21598.9NTRK1, NGFR, NGF
23bdnf (human)598.9NTRK1, NGFR, NGF
247,8-dihydroxyflavone44 599.9NTRK1, NGFR, NGF
25k252a448.9NGF, NGFR, NTRK1
26ganglioside448.9NTRK1, NGFR, NGF
27choline44 11 2410.9NGF, NGFR, NTRK1
28ceramide448.9NTRK1, NGFR, NGF
29matrigel448.9NGF, NGFR, NTRK1
30phosphotyrosine448.9NTRK1, NGFR, NGF
3112-o-tetradecanoylphorbol 13-acetate448.9NGF, NGFR, NTRK1
32acetylcholine44 49 28 11 2412.9NGF, NGFR, NTRK1
33wortmannin448.9NTRK1, NGFR, NGF
34phosphoinositide448.8NTRK1, NGFR, NGF
35dopamine44 28 11 2411.8NGF, NGFR, NTRK1
36vegf448.8NGF, NGFR, NTRK1
37phosphatidylinositol448.8NTRK1, NGFR, NGF
38threonine448.8NTRK1, NGFR, NGF
39glutamate448.8NGF, NGFR, NTRK1
40retinoic acid44 249.7NTRK1, NGFR, NGF
41cysteine448.7NGF, NGFR, NTRK1

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

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16Gene 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:0057688.5NGF, NGFR, NTRK1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0432819.4NGF, NGFR
2positive regulation of axonogenesisGO:0507729.4NGFR, NGF
3regulation of axonogenesisGO:0507709.3NGF, NGFR
4negative regulation of cell cycleGO:0457869.3NGFR, NGF
5response to electrical stimulusGO:0516029.3NGF, NTRK1
6response to radiationGO:0093149.3NGF, NTRK1
7activation of MAPKK activityGO:0001869.2NGF, NTRK1
8activation of phospholipase C activityGO:0072029.1NGF, NTRK1
9transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.1NGF, NTRK1
10Ras protein signal transductionGO:0072659.0NTRK1, NGF
11phosphatidylinositol-mediated signalingGO:0480159.0NGF, NTRK1
12negative regulation of neuron apoptotic processGO:0435248.9NGF, NTRK1
13apoptotic signaling pathwayGO:0971908.8NGF, NGFR
14neurotrophin TRK receptor signaling pathwayGO:0480118.8NGF, NGFR, NTRK1

Molecular functions related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nerve growth factor bindingGO:0484069.3NGFR, NTRK1

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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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