HSAN5
MCID: HRD082
MIFTS: 34

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

Neuronal category

Summaries for Hereditary Sensory and Autonomic Neuropathy Type V

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 autonomic 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:47 608654

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type V

Sources:
20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 45
hsan5 21 49
congenital sensory neuropathy with selective loss of small myelinated fibers 21
congenital insensitivity to pain and thermal analgesia 49
neuropathy, hereditary sensory and autonomic, type v 47
hereditary sensory and autonomic neuropathy, type 5 21
hereditary sensory and autonomic neuropathy type 5 49
hereditary sensory autonomic neuropathy, type 5 61
congenital insensitivity to pain 21
hsan v 21
nhsa5 49


External Ids:

OMIM47 608654
MESH via Orphanet36 D000699
ICD10 via Orphanet26 G60.8
SNOMED-CT via Orphanet58 128206006, 403605007
UMLS via Orphanet62 C0002768, C0020075

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type V

Sources:
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 with deafness and global delay 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
2autonomic neuropathy31.1NTRK1, NGF
3hereditary sensory and autonomic neuropathy iv10.8
4pain disorder10.5
5congenital insensitivity to pain with hyperhidrosis10.3
6orbital cellulitis10.2
7cellulitis10.2
8erythromelalgia10.2
9herpes zoster10.2
10arthritis10.2
11arthropathy10.2
12shwachman-diamond syndrome10.2
13bod syndrome10.2
14pyruvate kinase deficiency10.2
15keratoderma10.2
16mental retardation10.2
17septic shock10.2
18neuropathy, hereditary sensory and autonomic, type ia10.0
19ependymoma10.0NGFR
20granular cell tumor10.0NTRK1
21phaeochromocytoma10.0NGF
22neuropathy10.0NGF
23chagas disease10.0NTRK1
24parkinson's disease10.0NGF
25peripheral neuropathy10.0NTRK1
26hirschsprung's disease10.0NTRK1, NGFR
27thymic carcinoma10.0NTRK1, NGFR
28ischemia10.0NTRK1, NGFR
29thymoma10.0NTRK1, NGFR
30retinoblastoma10.0NGFR, NGF
31prolactinoma10.0NGFR, NGF
32neuroaxonal dystrophy10.0NGF, NTRK1
33hereditary sensory neuropathy10.0NTRK1, NGF
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

Sources:
47OMIM
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Clinical features from OMIM:

608654

Clinical synopsis from OMIM:

608654

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Type V

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Sensory and Autonomic Neuropathy Type V:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5NGF, NGFR, NTRK1
2MP:00028738.5NGF, NGFR, NTRK1
3MP:00053918.4NGF, NGFR, NTRK1
4MP:00107718.2NTRK1, NGFR, NGF

Publications for Hereditary Sensory and Autonomic Neuropathy Type V

Genetic Variations for Hereditary Sensory and Autonomic Neuropathy Type V

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type V:

63
id Symbol AA change Variation SNP ID
1NGFp.Arg221TrpVAR_030659rs11466112

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

Sources:
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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 60Tocris Bioscience, 12EMD Millipore, 38NCBI BioSystems Database, 56SinoBiological, 53R&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
Hide members
9.3NGFR, NTRK1
4
Hide members
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
Hide members
9.1NGF, NGFR
119.1NGFR, NGF
12
Hide members
9.1NGFR, NGF
13
Hide members
9.1NGF, NGFR
149.1NGFR, NGF
15
Hide members
9.0NGF, NTRK1
16
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9.0NGF, NTRK1
17
Hide members
9.0NTRK1, NGF
18
Hide members
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

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 50PharmGKB, 11DrugBank, 60Tocris 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 amp45 2411.2NTRK1
2phorbol4510.0NTRK1
3gnrh459.8NTRK1
4phenylalanine459.7NGFR
5estradiol valerate459.5NGFR, NGF
6catecholamine459.5NTRK1, NGFR
7acetyl-l-carnitine459.5NGFR, NGF
86 thioguanine459.5NGF, NGFR
9cipa459.4NGF, NTRK1
10ag 879459.4NGF, NTRK1
11propentofylline459.4NGF, NTRK1
12kt 582345 2910.4NGF, NTRK1
13dbc-amp459.4NGF, NGFR
14capsaicin45 2910.3NGF, NTRK1
15retinoid459.3NGFR, NTRK1
16c2ceramide459.3NGF, NTRK1
17nicotine45 50 29 1112.2NGF, NGFR
18cytarabine45 50 1111.2NGF, NTRK1
19aspirin45 50 29 2412.0NTRK1, NGF
20gnf 5837608.9NGF, NTRK1, NGFR
21ana 12608.9NTRK1, NGFR, NGF
22tlqp 21608.9NTRK1, NGFR, NGF
23bdnf (human)608.9NTRK1, NGFR, NGF
247,8-dihydroxyflavone45 609.9NTRK1, NGFR, NGF
25k252a458.9NGF, NGFR, NTRK1
26ganglioside458.9NTRK1, NGFR, NGF
27choline45 11 2410.9NGF, NGFR, NTRK1
28ceramide458.9NTRK1, NGFR, NGF
29matrigel458.9NGF, NGFR, NTRK1
30phosphotyrosine458.9NTRK1, NGFR, NGF
3112-o-tetradecanoylphorbol 13-acetate458.9NGF, NGFR, NTRK1
32acetylcholine45 50 29 11 2412.9NGF, NGFR, NTRK1
33wortmannin458.9NTRK1, NGFR, NGF
34phosphoinositide458.8NTRK1, NGFR, NGF
35dopamine45 29 11 2411.8NGF, NGFR, NTRK1
36vegf458.8NGF, NGFR, NTRK1
37phosphatidylinositol458.8NTRK1, NGFR, NGF
38threonine458.8NTRK1, NGFR, NGF
39glutamate458.8NGF, NGFR, NTRK1
40retinoic acid45 249.7NTRK1, NGFR, NGF
41cysteine458.7NGF, NGFR, NTRK1

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

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet