MCID: NRP037
MIFTS: 40

Neuropathy, Hereditary Sensory and Autonomic, Type V

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Ear diseases, Mental 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 54 50 13
Hsan5 50 24 25 56 71
Hereditary Sensory and Autonomic Neuropathy Type V 50 24 25 56
Hsan V 50 24 25 71
Congenital Insensitivity to Pain 24 25 71
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 25 29
Congenital Insensitivity to Pain and Thermal Analgesia 50 56
Hereditary Sensory and Autonomic Neuropathy Type 5 50 56
Hsan Type V 25 52
Indifference to Pain, Congenital, Autosomal Recessive 25
Hereditary Sensory and Autonomic Neuropathy, Type 5 25
Neuropathy, Hereditary Sensory and Autonomic, 5 71
Hereditary Sensory Autonomic Neuropathy, Type 5 69
Channelopathy-Associated Insensitivity to Pain 25
Hereditary Sensory Neuropathy Type V 71
Insensitivity to Pain, Congenital 50
Congenital Indifference to Pain 25
Pain Insensitivity, Congenital 25
Congenital Pain Indifference 25
Congenital Analgesia 25
Asymbolia for Pain 25
Hsn V 71
Cip 25

Characteristics:

Orphanet epidemiological data:

56
hereditary sensory and autonomic neuropathy type 5
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
neuropathy, hereditary sensory and autonomic, type v:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 608654
Orphanet 56 ORPHA64752
MESH via Orphanet 43 D000699
UMLS via Orphanet 70 C0002768 C0020075
ICD10 via Orphanet 34 G60.8
MedGen 40 C0020075

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type V

Genetics Home Reference : 25 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 congenital insensitivity to pain with severe intellectual disability and insensitivity to pain, congenital, with anhidrosis, and has symptoms including anhidrosis, self-mutilation and intellectual disability, mild. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Neuroscience. Affiliated tissues include bone and tongue, and related phenotypes are Increased shRNA abundance (Z-score > 2) and integument

NIH Rare Diseases : 50 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 Ii family:

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

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 congenital insensitivity to pain with severe intellectual disability 12.2
2 insensitivity to pain, congenital, with anhidrosis 12.2
3 insensitivity to pain, congenital 12.2
4 congenital insensitivity to pain with hyperhidrosis 12.1
5 critical illness polyneuropathy 11.5
6 neuropathy, hereditary sensory and autonomic, type vii 11.1
7 autonomic neuropathy 10.4
8 neuropathy 10.4
9 pharynx carcinoma in situ 10.0 NGF NTRK1
10 water-clear cell adenoma 10.0 NGF NTRK1
11 cecum adenoma 10.0 NGF NTRK1
12 scleroperikeratitis 10.0 NGF NTRK1
13 respiratory failure 10.0 NGF NTRK1
14 epidermolysis bullosa simplex superficialis 10.0 NGF NTRK1
15 greig cephalopolysyndactyly syndrome 9.9 NGF NTRK1
16 postmenopausal atrophic vaginitis 9.9 NGF NTRK1
17 cystadenoma 9.9 NGF NTRK1
18 fissured tongue 9.8 NGF NTRK1
19 small cell sarcoma 9.7 NGF NTRK1
20 tinea favosa 9.7 NGF SCN9A
21 benign familial infantile epilepsy 9.7 NGF SCN9A
22 placenta accreta 9.6 NGF SCN9A
23 pheochromocytoma 9.6 NGF NTRK1
24 pancreatic acinar cell adenocarcinoma 9.5 NGF SCN9A
25 glioblastoma 3 9.4 NGF NTRK1
26 febrile seizures, familial, 3b 9.2 NGF NTRK1 SCN9A
27 diffuse large b-cell lymphoma 9.2 NGF NTRK1 SCN9A

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:

54

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

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

Skeletal:
painless fractures due to injury

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

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

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


Clinical features from OMIM:

608654

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 anhidrosis 32 occasional (7.5%) HP:0000970
2 self-mutilation 32 HP:0000742
3 intellectual disability, mild 32 occasional (7.5%) HP:0001256
4 painless fractures due to injury 32 HP:0002661
5 pain insensitivity 32 HP:0007021
6 episodic fever 32 occasional (7.5%) HP:0001954
7 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226
8 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 32 HP:0001862

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.4 NGF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 NGF NTRK1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.4 NGF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.4 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.4 NGF NTRK1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.4 NTRK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.4 NGF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.4 NTRK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 NTRK1

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type V:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 NGF NTRK1 SCN9A
2 normal MP:0002873 8.8 NGF NTRK1 SCN9A

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:

id Genetic test Affiliating Genes
1 Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers 29
2 Hereditary Sensory and Autonomic Neuropathy Type V 24 NGF

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

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

39
Bone, Tongue

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type V

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type V

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs121908908 GRCh37 Chromosome 2, 167143072: 167143072
2 SCN9A SCN9A, 1-BP DEL, 2298T deletion Pathogenic
3 SCN9A NM_002977.3(SCN9A): c.2691G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs121908909 GRCh37 Chromosome 2, 167133643: 167133643
4 SCN9A NM_002977.3(SCN9A): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs121908916 GRCh37 Chromosome 2, 167159672: 167159672
5 SCN9A NM_002977.3(SCN9A): c.984C> A (p.Tyr328Ter) single nucleotide variant Pathogenic rs121908917 GRCh37 Chromosome 2, 167149864: 167149864
6 NGF NM_002506.2(NGF): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs11466112 GRCh37 Chromosome 1, 115828756: 115828756
7 NGF NGF, 680C-A AND 2-BP DEL, 681GG deletion Pathogenic
8 SCN9A NM_002977.3(SCN9A): c.3993delGinsTT (p.Leu1331Phefs) indel Pathogenic rs606231279 GRCh37 Chromosome 2, 167085381: 167085381
9 SCN9A NM_002977.3(SCN9A): c.2690G> A (p.Trp897Ter) single nucleotide variant Pathogenic rs794729216 GRCh37 Chromosome 2, 167133644: 167133644

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

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

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.43 NGF NTRK1
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.4 NGF NTRK1
3 phosphatidylinositol-mediated signaling GO:0048015 9.37 NGF NTRK1
4 microtubule-based movement GO:0007018 9.32 NGF NTRK1
5 sensory perception of pain GO:0019233 9.26 NTRK1 SCN9A
6 activation of MAPKK activity GO:0000186 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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