HSAN
MCID: HRD021
MIFTS: 49

Hereditary Sensory Neuropathy (HSAN)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Sensory Neuropathy

MalaCards integrated aliases for Hereditary Sensory Neuropathy:

Name: Hereditary Sensory Neuropathy 12 15
Hereditary Sensory and Autonomic Neuropathy 12 53 37 6
Hereditary Sensory and Autonomic Neuropathies 73
Hereditary Sensory Autonomic Neuropathy 53
Familial Dysautonomia, Type Ii 12
Sensory Neuropathy, Hereditary 73
Sensory Neuropathy Hereditary 55
Hsan 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050548
KEGG 37 H00265

Summaries for Hereditary Sensory Neuropathy

NIH Rare Diseases : 53 Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers.Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function. HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner.

MalaCards based summary : Hereditary Sensory Neuropathy, also known as hereditary sensory and autonomic neuropathy, is related to neuropathy, hereditary sensory, type ie and hereditary sensory and autonomic neuropathy type 1. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Sphingolipid metabolism and Endocytosis. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include tongue, bone and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.

Wikipedia : 76 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

Related Diseases for Hereditary Sensory Neuropathy

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sensory Neuropathy Type 1

Diseases related to Hereditary Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 33.3 DNMT1 SPTLC1 SPTLC2
2 hereditary sensory and autonomic neuropathy type 1 32.7 ATL1 ATL3 DNMT1 SPTLC1 SPTLC2
3 neuropathy, hereditary sensory and autonomic, type v 32.7 NGF NTRK1
4 neuropathy, hereditary sensory and autonomic, type iia 32.2 ELP1 KIF1A RETREG1 WNK1
5 neuropathy, hereditary sensory and autonomic, type ic 32.0 SPTLC1 SPTLC2
6 neuropathy - hereditary 31.9 DNMT1 SPTLC1
7 neuropathy, hereditary sensory and autonomic, type iii 31.3 ELP1 NGF NTRK2
8 sensory peripheral neuropathy 31.3 NGF NTRK1 SPTLC1
9 autonomic neuropathy 30.1 ELP1 KIF1A NGF NTRK1 RETREG1 SPTLC1
10 anhidrosis 30.0 NGF NTRK1
11 neuropathy 29.9 ATL3 DNMT1 ELP1 KIF1A NGF RETREG1
12 hereditary spastic paraplegia 29.8 ATL1 ATL3 KIF1A
13 x-linked hereditary sensory and autonomic neuropathy with deafness 12.4
14 hereditary sensory and autonomic neuropathy with deafness and global delay 12.4
15 neuropathy, hereditary sensory and autonomic, type iib 12.3
16 neuropathy, hereditary sensory and autonomic, type ia 12.2
17 neuropathy, hereditary sensory, type if 12.0
18 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.9
19 insensitivity to pain, congenital, with anhidrosis 11.9
20 neuropathy, hereditary sensory, type id 11.9
21 neuropathy, hereditary sensory, atypical 11.7
22 neuropathy, hereditary sensory, x-linked 11.7
23 neuropathy, hereditary sensory and autonomic, type vi 11.7
24 spastic paraplegia 49, autosomal recessive 11.5
25 neuropathy, hereditary sensory, type iic 11.4
26 deafness, x-linked 5 11.4
27 prp systemic amyloidosis 11.4
28 neuropathy, hereditary, with liability to pressure palsies 11.3
29 indifference to pain, congenital, autosomal recessive 11.3
30 ramos arroyo clark syndrome 11.3
31 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 11.2
32 dnmt1-related dementia, deafness, and sensory neuropathy 11.2
33 neuropathy, hereditary sensory and autonomic, type vii 11.1
34 neuropathy, hereditary sensory and autonomic, type viii 11.1
35 familial syringomyelia 11.1
36 sensory neuropathy type 1 10.4
37 dysautonomia 10.3
38 dementia 10.2
39 paraplegia 10.2
40 spastic paraplegia 3a 10.2 ATL1 ATL3
41 arthropathy 10.2
42 dystonia 10.1
43 neuropathy sensory spastic paraplegia 10.1
44 neurotrophic keratopathy 10.1
45 neurogenic arthropathy 10.1 NGF SPTLC1
46 askin's tumor 10.0 NGF NTRK1
47 prolactin producing pituitary tumor 10.0 NGF NTRK1
48 gastroesophageal reflux 10.0
49 charcot-marie-tooth disease 10.0
50 tooth disease 10.0

Graphical network of the top 20 diseases related to Hereditary Sensory Neuropathy:



Diseases related to Hereditary Sensory Neuropathy

Symptoms & Phenotypes for Hereditary Sensory Neuropathy

GenomeRNAi Phenotypes related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.58 SPTLC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 NGF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 NGF NTRK1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 NGF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 NGF NTRK1 SPTLC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 NTRK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 NGF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 NTRK1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 SPTLC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 SPTLC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 NTRK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 SPTLC1

MGI Mouse Phenotypes related to Hereditary Sensory Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATL1 DNMT1 ELP1 KIF1A NGF NTRK1
2 growth/size/body region MP:0005378 9.86 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
3 integument MP:0010771 9.7 DNMT1 ELP1 KIF1A NGF NTRK1 RETREG1
4 mortality/aging MP:0010768 9.61 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2
5 nervous system MP:0003631 9.28 DNMT1 ELP1 KIF1A NGF NTRK1 NTRK2

Drugs & Therapeutics for Hereditary Sensory Neuropathy

Drugs for Hereditary Sensory Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
2 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939 Not Applicable

Search NIH Clinical Center for Hereditary Sensory Neuropathy

Genetic Tests for Hereditary Sensory Neuropathy

Anatomical Context for Hereditary Sensory Neuropathy

MalaCards organs/tissues related to Hereditary Sensory Neuropathy:

41
Tongue, Bone, Skin, Spinal Cord, Brain, Testes, Pituitary

Publications for Hereditary Sensory Neuropathy

Articles related to Hereditary Sensory Neuropathy:

(show top 50) (show all 199)
# Title Authors Year
1
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. ( 29701257 )
2018
2
Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers. ( 29584606 )
2018
3
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. ( 29778900 )
2018
4
Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. ( 29982604 )
2018
5
Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases. ( 30011089 )
2018
6
Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'. ( 30181410 )
2018
7
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. ( 30342480 )
2018
8
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. ( 30384131 )
2018
9
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. ( 28422281 )
2017
10
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. ( 29042446 )
2017
11
Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report. ( 29077663 )
2017
12
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. ( 28807049 )
2017
13
Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy. ( 28623285 )
2017
14
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). ( 27676246 )
2017
15
Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report. ( 27765018 )
2016
16
Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. ( 27247588 )
2016
17
A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency. ( 27277422 )
2016
18
Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). ( 27637569 )
2016
19
Painless Ulcers and Fissures of Toes: Hereditary Sensory Neuropathy, Not Leprosy. ( 26955138 )
2016
20
Oral manifestations and prosthetic rehabilitation in hereditary sensory and autonomic neuropathy (HSAN)type IV: a case report. ( 28955566 )
2016
21
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. ( 26573920 )
2015
22
Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method. ( 26562335 )
2015
23
Hereditary sensory and autonomic neuropathy type V: Report of a rare case. ( 25684922 )
2015
24
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( 26395456 )
2015
25
The puzzle of orthostatic tolerance in hereditary sensory and autonomic neuropathy, type IV. ( 25866260 )
2015
26
Hereditary sensory and autonomic neuropathy types IV and V in Japan. ( 25422087 )
2015
27
Early-onset severe hereditary sensory and autonomic neuropathy typeA 1 with S331F SPTLC1 mutation. ( 24247255 )
2014
28
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. ( 24494679 )
2014
29
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. ( 25033457 )
2014
30
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. ( 24736309 )
2014
31
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy. ( 25124038 )
2014
32
Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1. ( 25042817 )
2014
33
Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation. ( 25287017 )
2014
34
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation. ( 24631696 )
2014
35
Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux. ( 24760089 )
2014
36
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. ( 23495212 )
2013
37
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. ( 23596073 )
2013
38
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. ( 23521649 )
2013
39
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. ( 24070693 )
2013
40
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. ( 23658386 )
2013
41
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. ( 24327336 )
2013
42
Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity. ( 23112235 )
2013
43
Mutation in FAM134B causing severe hereditary sensory neuropathy. ( 21115472 )
2012
44
A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia). ( 22229594 )
2012
45
Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child. ( 23175206 )
2012
46
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features. ( 22340599 )
2012
47
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. ( 22302274 )
2012
48
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. ( 22910560 )
2012
49
Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia? ( 22140130 )
2012
50
Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families". ( 21847616 )
2012

Variations for Hereditary Sensory Neuropathy

ClinVar genetic disease variations for Hereditary Sensory Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.4700G> A (p.Trp1567Ter) single nucleotide variant Likely pathogenic rs200070962 GRCh37 Chromosome 2, 167060506: 167060506
2 SCN9A NM_002977.3(SCN9A): c.4700G> A (p.Trp1567Ter) single nucleotide variant Likely pathogenic rs200070962 GRCh38 Chromosome 2, 166203996: 166203996

Expression for Hereditary Sensory Neuropathy

Search GEO for disease gene expression data for Hereditary Sensory Neuropathy.

Pathways for Hereditary Sensory Neuropathy

Pathways related to Hereditary Sensory Neuropathy according to KEGG:

37
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Endocytosis hsa04144
3 Phagosome hsa04145
4 MAPK signaling pathway hsa04010
5 Apoptosis hsa04210
6 Neurotrophin signaling pathway hsa04722

GO Terms for Hereditary Sensory Neuropathy

Cellular components related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.77 ATL1 ATL3 RETREG1 SPTLC1 SPTLC2
2 dendrite GO:0030425 9.62 KIF1A NGF NTRK1 NTRK2
3 endoplasmic reticulum tubular network GO:0071782 9.26 ATL1 ATL3
4 endoplasmic reticulum tubular network membrane GO:0098826 9.16 ATL1 ATL3
5 axon GO:0030424 9.02 ATL1 KIF1A NGF NTRK1 NTRK2
6 serine C-palmitoyltransferase complex GO:0017059 8.96 SPTLC1 SPTLC2

Biological processes related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.88 ELP1 NTRK1 NTRK2 WNK1
2 protein autophosphorylation GO:0046777 9.69 NTRK1 NTRK2 WNK1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 NGF NTRK1 NTRK2
4 activation of MAPKK activity GO:0000186 9.6 NGF NTRK1
5 phosphatidylinositol-mediated signaling GO:0048015 9.59 NGF NTRK1
6 sphingolipid metabolic process GO:0006665 9.58 SPTLC1 SPTLC2
7 biosynthetic process GO:0009058 9.57 SPTLC1 SPTLC2
8 cellular response to nerve growth factor stimulus GO:1990090 9.56 NTRK1 NTRK2
9 positive regulation of axonogenesis GO:0050772 9.55 NGF NTRK2
10 endoplasmic reticulum organization GO:0007029 9.54 ATL1 ATL3
11 ceramide biosynthetic process GO:0046513 9.52 SPTLC1 SPTLC2
12 positive regulation of Ras protein signal transduction GO:0046579 9.49 NGF NTRK1
13 nerve growth factor signaling pathway GO:0038180 9.48 NGF NTRK1
14 negative regulation of neuron apoptotic process GO:0043524 9.46 NGF NTRK1 NTRK2 RETREG1
15 sphingosine biosynthetic process GO:0046512 9.43 SPTLC1 SPTLC2
16 sphingomyelin biosynthetic process GO:0006686 9.4 SPTLC1 SPTLC2
17 mechanoreceptor differentiation GO:0042490 9.37 NTRK1 NTRK2
18 positive regulation of lipophagy GO:1904504 9.32 SPTLC1 SPTLC2
19 neurotrophin signaling pathway GO:0038179 9.26 NTRK1 NTRK2
20 sphinganine biosynthetic process GO:0046511 8.96 SPTLC1 SPTLC2
21 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NGF NTRK1 NTRK2

Molecular functions related to Hereditary Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 DNMT1 NTRK1 NTRK2 SPTLC1 SPTLC2 WNK1
2 serine C-palmitoyltransferase activity GO:0004758 9.16 SPTLC1 SPTLC2
3 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK2
4 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK2

Sources for Hereditary Sensory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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