MCID: NRP037
MIFTS: 40

Neuropathy, Hereditary Sensory and Autonomic, Type V

Categories: Genetic diseases, Rare diseases, Ear diseases, Mental diseases, Gastrointestinal diseases, Neuronal diseases, Skin diseases, Eye diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type V

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type V:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type V 53 49 13
Hsan5 53 49 24 55 71
Hsan V 53 49 24 71
Hereditary Sensory and Autonomic Neuropathy Type V 49 24 55
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 24 28
Congenital Insensitivity to Pain and Thermal Analgesia 49 55
Hereditary Sensory and Autonomic Neuropathy Type 5 49 55
Insensitivity to Pain, Congenital 53 49
Congenital Insensitivity to Pain 24 71
Hsan Type V 24 51
Hereditary Sensory and Autonomic Neuropathy, Type 5 24
Neuropathy, Hereditary Sensory and Autonomic, 5 71
Hereditary Sensory Autonomic Neuropathy, Type 5 69
Hereditary Sensory Neuropathy Type V 71
Hsn V 71

Characteristics:

Orphanet epidemiological data:

55
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'


HPO:

31
neuropathy, hereditary sensory and autonomic, type v:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 608654
Orphanet 55 ORPHA64752
MESH via Orphanet 42 D000699
UMLS via Orphanet 70 C0002768 C0020075
ICD10 via Orphanet 33 G60.8
MedGen 39 C0020075
UMLS 69 C0020075

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetics Home Reference : 24 Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia).

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as hsan5, is related to hereditary sensory neuropathy and insensitivity to pain, congenital, with anhidrosis, and has symptoms including intellectual disability, mild, anhidrosis and episodic fever. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and MAPK signaling pathway. Affiliated tissues include bone and tongue, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 49 Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury. Last updated: 10/27/2015

UniProtKB/Swiss-Prot : 71 Neuropathy, hereditary sensory and autonomic, 5: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable.

Description from OMIM: 608654

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type V

Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Iii family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type V Neuropathy, Hereditary Sensory and Autonomic, Type Iib
Neuropathy, Hereditary Sensory and Autonomic, Type Ic Neuropathy, Hereditary Sensory and Autonomic, Type Vi
Neuropathy, Hereditary Sensory and Autonomic, Type Vii Neuropathy, Hereditary Sensory and Autonomic, Type Viii
Hereditary Sensory and Autonomic Neuropathy Type 1e

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 32.3 NGF NTRK1
2 insensitivity to pain, congenital, with anhidrosis 12.3
3 congenital insensitivity to pain with severe intellectual disability 12.3
4 indifference to pain, congenital, autosomal recessive 11.3
5 marsili syndrome 11.2
6 neuropathy, hereditary sensory and autonomic, type vii 11.2
7 neuropathy 9.9
8 episodic pain syndrome, familial, 1 9.9
9 askin's tumor 9.8 NGF NTRK1
10 prolactin producing pituitary tumor 9.8 NGF NTRK1
11 conjunctival nevus 9.8 NGF NTRK1
12 sweat gland disease 9.8 NGF NTRK1
13 anhidrosis 9.8 NGF NTRK1
14 ocular cicatricial pemphigoid 9.8 NGF NTRK1
15 cerebral cavernous malformations 2 9.8 NGF NTRK1
16 peripheral nervous system neoplasm 9.7 NGF NTRK1
17 autonomic nervous system neoplasm 9.7 NGF NTRK1
18 autonomic neuropathy 9.7 NGF NTRK1
19 nervous system cancer 9.7 NGF NTRK1
20 diabetic neuropathy 9.7 NGF NTRK1
21 pheochromocytoma 9.6 NGF NTRK1
22 medulloblastoma 9.6 NGF NTRK1
23 amyotrophic lateral sclerosis 1 9.5 NGF NTRK1
24 neuroblastoma 9.4 NGF NTRK1

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type V

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type V

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
mental retardation, mild (1 family)

Head And Neck Mouth:
accidental injury and ulceration of the lips and tongue due to decreased sensation

Skeletal Feet:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Skin Nails Hair Skin:
acral ulcers
anhidrosis, patchy, in some patients

Metabolic Features:
increased body temperature, episodic, in some patients

Skeletal:
painless fractures due to injury

Skeletal Hands:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Immunology:
increased susceptibility to severe and frequent infections with staphylococcus aureus

Neurologic Peripheral Nervous System:
pain insensitivity, distal
temperature insensitivity, distal, in some patients
normal large myelinated fiber sensory modalities
normal reflexes
selective decrease in small myelinated fibers seen on sural nerve biopsy
more

Clinical features from OMIM:

608654

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 occasional (7.5%) HP:0001256
2 anhidrosis 31 occasional (7.5%) HP:0000970
3 episodic fever 31 occasional (7.5%) HP:0001954
4 pain insensitivity 31 HP:0007021
5 self-mutilation 31 HP:0000742
6 painless fractures due to injury 31 HP:0002661
7 acral ulceration and osteomyelitis leading to autoamputation of digits 31 HP:0001226
8 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 31 HP:0001862

GenomeRNAi Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 NGF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 NGF NTRK1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 NGF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 NGF NTRK1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 NTRK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 NGF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 NTRK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 NTRK1

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

# Genetic test Affiliating Genes
1 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 28 NGF

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type V

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

38
Bone, Tongue

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

# Title Authors Year
1
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. ( 20978020 )
2011
2
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. ( 15468048 )
2004

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

71
# Symbol AA change Variation ID SNP ID
1 NGF p.Arg221Trp VAR_030659 rs11466112

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh37 Chromosome 1, 115828756: 115828756
2 NGF NGF, 680C-A AND 2-BP DEL, 681GG deletion Pathogenic

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type V

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type V.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type V

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 NGF NTRK1
2 12.17 NGF NTRK1
3
Show member pathways
12.14 NGF NTRK1
4
Show member pathways
12.11 NGF NTRK1
5
Show member pathways
12.04 NGF NTRK1
6
Show member pathways
11.99 NGF NTRK1
7 11.94 NGF NTRK1
8
Show member pathways
11.55 NGF NTRK1
9 11.48 NGF NTRK1
10 11.32 NGF NTRK1
11
Show member pathways
11.05 NGF NTRK1
12
Show member pathways
10.74 NGF NTRK1
13 10.44 NGF NTRK1
14
Show member pathways
9.66 NGF NTRK1

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type V

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 8.62 NGF NTRK1

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.43 NGF NTRK1
2 negative regulation of neuron apoptotic process GO:0043524 9.4 NGF NTRK1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.37 NGF NTRK1
4 microtubule-based movement GO:0007018 9.32 NGF NTRK1
5 activation of MAPKK activity GO:0000186 9.26 NGF NTRK1
6 phosphatidylinositol-mediated signaling GO:0048015 9.16 NGF NTRK1
7 positive regulation of Ras protein signal transduction GO:0046579 8.96 NGF NTRK1
8 neurotrophin TRK receptor signaling pathway GO:0048011 8.62 NGF NTRK1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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