HSAN5
MCID: HRD082
MIFTS: 44

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

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

Summaries for Hereditary Sensory and Autonomic Neuropathy Type V

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NGF antibody
NTRK1 antibody
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 based summary: Hereditary Sensory and Autonomic Neuropathy Type V, also known as congenital sensory neuropathy with selective loss of small myelinated fibers, 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 Hereditary Sensory and Autonomic Neuropathy Type V is NGF (nerve growth factor (beta polypeptide)), 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:46 608654

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type V

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Sources:
21GeneTests, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Hereditary Sensory and Autonomic Neuropathy Type V, Aliases & Descriptions:

Name: Hereditary Sensory and Autonomic Neuropathy Type V 21 22 61
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 22 61
Hsan Type V 22 44
Hsan5 22 48
Congenital Insensitivity to Pain and Thermal Analgesia 48
Neuropathy, Hereditary Sensory and Autonomic, Type V 46
 
Hereditary Sensory and Autonomic Neuropathy, Type 5 22
Hereditary Sensory and Autonomic Neuropathy Type 5 48
Hereditary Sensory Autonomic Neuropathy, Type 5 61
Congenital Insensitivity to Pain 22
Hsan V 22


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 608654
MESH via Orphanet35 D000699
ICD10 via Orphanet27 G60.8
UMLS via Orphanet62 C0002768, C0020075

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type V

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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 44)
idRelated DiseaseScoreTop Affiliating Genes
1anhidrosis31.9NTRK1, NGF
2autonomic neuropathy31.3NGF, NTRK1
3hereditary sensory neuropathy31.2NGF, NTRK1
4mental retardation30.3NGF, NTRK1
5congenital insensitivity to pain with anhidrosis11.2
6neuropathy10.8
7congenital insensitivity to pain with hyperhidrosis10.4
8arthritis10.2
9shwachman-diamond syndrome10.2
10erythromelalgia10.2
11neuronitis10.2
12herpes zoster10.2
13orbital cellulitis10.2
14arthropathy10.2
15cellulitis10.2
16corneal ulcer10.2
17keratitis10.2
18leprosy10.2
19osteomyelitis10.2
20keratoderma10.2
21paroxysmal extreme pain disorder10.2
22neuropathy, hereditary sensory and autonomic, type vii10.2
23septic shock10.2
24neuropathy, hereditary sensory and autonomic, type ia10.1
25neuroaxonal dystrophy10.0NGF, NTRK1
26diabetic neuropathy10.0NGF, NTRK1
27rett syndrome10.0NTRK1, NGF
28sensory peripheral neuropathy10.0NTRK1, NGF
29ganglioneuroma10.0NTRK1, NGF
30prion disease10.0NTRK1, NGF
31allergic asthma10.0NTRK1, NGF
32medulloblastoma10.0NTRK1, NGF
33neuroblastoma10.0NTRK1, NGF
34cholera10.0NGF, NTRK1
35amyotrophic lateral sclerosis type 1410.0NGF, NTRK1
36pheochromocytoma10.0NGF, NTRK1
37parkinson's disease10.0NGF, NTRK1
38astrocytoma9.9NTRK1, NGF
39osteosarcoma9.9NTRK1, NGF
40schizophrenia9.9NTRK1, NGF
41breast cancer9.9NGF, NTRK1
42alzheimer's disease9.9NTRK1, NGF
43malignant glioma9.8NTRK1, NGF
44colonic benign neoplasm9.8NGF, NTRK1

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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Symptoms by clinical synopsis from OMIM:

608654

Clinical features from OMIM:

608654

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

(show all 11)
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 self-mutilation HP:0000742
5 anhidrosis HP:0000970
6 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
7 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) HP:0001862
8 painless fractures due to injury HP:0002661
9 infantile onset HP:0003593
10 pain insensitivity HP:0007021
11 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Type V

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Drug clinical trials:

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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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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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Articles related to Hereditary Sensory and Autonomic Neuropathy Type V:

idTitleAuthorsYear
1
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. (24494679)
2014
2
Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy type V): a rare case report. (18647521)
2008
3
Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation. (18498365)
2008
4
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
5
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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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type V:

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

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

7
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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Expression patterns in normal tissues for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Type V

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

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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 signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
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 pathway37
9.1NTRK1, NGF
7
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.1NGF, NTRK1
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
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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Compounds related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1cipa449.6NGF, NTRK1
2ag 879449.5NGF, NTRK1
3tlqp 21609.5NGF, NTRK1
4ana 12609.5NTRK1, NGF
5gnf 5837609.5NTRK1, NGF
6bdnf (human)609.5NGF, NTRK1
77,8-dihydroxyflavone60 4410.5NTRK1, NGF
8propentofylline449.5NTRK1, NGF
9kt 582344 2910.5NGF, NTRK1
10k252a449.5NTRK1, NGF
11capsaicin44 2910.5NGF, NTRK1
12c2ceramide449.5NGF, NTRK1
13ganglioside449.5NTRK1, NGF
14cytarabine44 50 1211.5NGF, NTRK1
15choline44 25 1211.5NTRK1, NGF
16ceramide449.5NGF, NTRK1
17aspirin44 50 29 2512.5NTRK1, NGF
18gnrh449.5NTRK1, NGF
19matrigel449.5NGF, NTRK1
20phosphotyrosine449.5NGF, NTRK1
2112-o-tetradecanoylphorbol 13-acetate449.5NGF, NTRK1
22acetylcholine44 50 29 25 1213.4NTRK1, NGF
23pd 98,059449.4NGF, NTRK1
24ly294002449.4NTRK1, NGF
25wortmannin449.4NGF, NTRK1
26phosphoinositide449.4NTRK1, NGF
27genistein44 29 60 3 25 1214.4NGF, NTRK1
28dopamine44 29 25 1212.4NGF, NTRK1
29creatinine449.4NGF, NTRK1
30adenylate449.3NTRK1, NGF
31cyclic amp44 2510.3NGF, NTRK1
32cycloheximide449.3NTRK1, NGF
33testosterone44 60 25 1212.2NTRK1, NGF
34vegf449.2NGF, NTRK1
35phosphatidylinositol449.1NTRK1, NGF
36alanine449.1NGF, NTRK1
37threonine449.0NTRK1, NGF
38glutamate448.8NGF, NTRK1

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

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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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4CDC
14ExPASy
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23GTR
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25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
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34MeSH
35MESH via Orphanet
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39NCIt
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44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
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62UMLS via Orphanet