HSAN5
MCID: HRD082
MIFTS: 40

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

Genetic diseases, Neuronal diseases, Rare diseases, Gastrointestinal diseases categories
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Summaries for Hereditary Sensory and Autonomic Neuropathy Type V

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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 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:47 608654

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type V

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21Genetics Home Reference, 20GeneTests, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
congenital insensitivity to pain 21
hsan v 21


External Ids:

OMIM47 608654
MESH via Orphanet36 D000699
ICD10 via Orphanet26 G60.8
SNOMED-CT via Orphanet59 128206006
UMLS via Orphanet63 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 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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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

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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Publications for Hereditary Sensory and Autonomic Neuropathy Type V

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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type V:

64
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, 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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50PathCards, 60Thomson Reuters, 30KEGG, 5Cell Signaling Technology, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN
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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 signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
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 pathway38
9.1NTRK1, NGF
7
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1NGF, NTRK1
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
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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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 11DrugBank, 24HMDB, 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
1cipa459.6NTRK1, NGF
2ag 879459.5NTRK1, NGF
3ana 12619.5NGF, NTRK1
4tlqp 21619.5NGF, NTRK1
5bdnf (human)619.5NGF, NTRK1
6gnf 5837619.5NGF, NTRK1
77,8-dihydroxyflavone61 4510.5NGF, NTRK1
8propentofylline459.5NTRK1, NGF
9kt 582345 2910.5NTRK1, NGF
10k252a459.5NGF, NTRK1
11capsaicin45 2910.5NTRK1, NGF
12c2ceramide459.5NTRK1, NGF
13ganglioside459.5NGF, NTRK1
14cytarabine45 51 1111.5NTRK1, NGF
15choline45 24 1111.5NGF, NTRK1
16ceramide459.5NTRK1, NGF
17aspirin45 51 29 2412.5NTRK1, NGF
18gnrh459.5NGF, NTRK1
19matrigel459.5NTRK1, NGF
20phosphotyrosine459.5NGF, NTRK1
2112-o-tetradecanoylphorbol 13-acetate459.5NTRK1, NGF
22acetylcholine45 51 29 24 1113.4NTRK1, NGF
23pd 98,059459.4NGF, NTRK1
24ly294002459.4NTRK1, NGF
25wortmannin459.4NGF, NTRK1
26phosphoinositide459.4NTRK1, NGF
27genistein45 29 61 3 24 1114.4NTRK1, NGF
28dopamine45 29 24 1112.4NTRK1, NGF
29creatinine459.4NGF, NTRK1
30adenylate459.3NTRK1, NGF
31cyclic amp45 2410.3NTRK1, NGF
32cycloheximide459.3NGF, NTRK1
33testosterone45 61 24 1112.2NTRK1, NGF
34vegf459.2NGF, NTRK1
35phosphatidylinositol459.1NTRK1, NGF
36alanine459.1NTRK1, NGF
37threonine459.0NTRK1, NGF
38glutamate458.8NTRK1, NGF

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: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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet