HSAN5
MCID: HRD082
MIFTS: 42

Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) malady

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

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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 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 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:
20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hereditary Sensory and Autonomic Neuropathy Type V, Aliases & Descriptions:

Name: Hereditary Sensory and Autonomic Neuropathy Type V 20 21 62
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 21 62
Hsan Type V 21 44
Hsan5 21 48
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 62
Congenital Insensitivity to Pain 21
Hsan V 21


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 Orphanet26 G60.8
UMLS via Orphanet63 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 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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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:

64
id Symbol AA change Variation ID SNP ID
1NGFp.Arg221TrpVAR_030659rs11466112

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

6
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

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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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 pathway37
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 Receptor37
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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Compounds related to Hereditary Sensory and Autonomic Neuropathy Type V according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1cipa449.6NTRK1, NGF
2ag 879449.5NTRK1, NGF
3ana 12619.5NGF, NTRK1
4tlqp 21619.5NGF, NTRK1
5bdnf (human)619.5NGF, NTRK1
6gnf 5837619.5NGF, NTRK1
77,8-dihydroxyflavone61 4410.5NGF, NTRK1
8propentofylline449.5NTRK1, NGF
9kt 582344 2810.5NTRK1, NGF
10k252a449.5NGF, NTRK1
11capsaicin44 2810.5NTRK1, NGF
12c2ceramide449.5NTRK1, NGF
13ganglioside449.5NGF, NTRK1
14cytarabine44 50 1111.5NTRK1, NGF
15choline44 24 1111.5NGF, NTRK1
16ceramide449.5NTRK1, NGF
17aspirin44 50 28 2412.5NTRK1, NGF
18gnrh449.5NGF, NTRK1
19matrigel449.5NTRK1, NGF
20phosphotyrosine449.5NGF, NTRK1
2112-o-tetradecanoylphorbol 13-acetate449.5NTRK1, NGF
22acetylcholine44 50 28 24 1113.4NTRK1, NGF
23pd 98,059449.4NGF, NTRK1
24ly294002449.4NTRK1, NGF
25wortmannin449.4NGF, NTRK1
26phosphoinositide449.4NTRK1, NGF
27genistein44 28 61 2 24 1114.4NTRK1, NGF
28dopamine44 28 24 1112.4NTRK1, NGF
29creatinine449.4NGF, NTRK1
30adenylate449.3NTRK1, NGF
31cyclic amp44 2410.3NTRK1, NGF
32cycloheximide449.3NGF, NTRK1
33testosterone44 61 24 1112.2NTRK1, NGF
34vegf449.2NGF, NTRK1
35phosphatidylinositol449.1NTRK1, NGF
36alanine449.1NTRK1, NGF
37threonine449.0NTRK1, NGF
38glutamate448.8NTRK1, NGF

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet