HSAN1
MCID: HRD201
MIFTS: 43

Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Type 1

MalaCards integrated aliases for Hereditary Sensory and Autonomic Neuropathy Type 1:

Name: Hereditary Sensory and Autonomic Neuropathy Type 1 12 58 29 6 15
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 20 43
Hereditary Sensory and Autonomic Neuropathy Type Ie 43 71
Hereditary Sensory and Autonomic Neuropathy Type I 12 58
Hereditary Sensory Neuropathy Type Ie 20 43
Hsan1e 20 43
Hsan1 12 58
Hsnie 20 43
Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss 43
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 20
Hereditary Sensory Neuropathy with Hearing Loss and Dementia 20
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 20
Hereditary Sensory and Autonomic Neuropathy Type 1e 20
Hereditary Sensory Autonomic Neuropathy, Type 1 71
Dnmt1-Complex Disorder 43
Hsn Ie 43
Hsn1e 20

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070162
MeSH 44 D009477
SNOMED-CT 67 52647008
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 72 C0020071
Orphanet 58 ORPHA36386
UMLS 71 C0020071 C3279885

Summaries for Hereditary Sensory and Autonomic Neuropathy Type 1

MedlinePlus Genetics : 43 Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).People with HSAN IE develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss, which affects both ears, gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35.Affected individuals experience dementia typically beginning in their thirties. In some people with HSAN IE, changes in personality, such as irritability, apathy, or lack of impulse control, become apparent before problems with thinking skills.Peripheral neuropathy is caused by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Loss of sensation in the feet and legs, which usually begins in adolescence or early adulthood in people with HSAN IE and worsens over time, can cause difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to complications such as open sores and infections. If these complications are severe, amputation of the affected areas may be required.Some people with HSAN IE also experience recurrent seizures (epilepsy) and sleep problems. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even among affected members of the same family.

MalaCards based summary : Hereditary Sensory and Autonomic Neuropathy Type 1, also known as dnmt1-related dementia, deafness, and sensory neuropathy, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory, type ie. An important gene associated with Hereditary Sensory and Autonomic Neuropathy Type 1 is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drug Serine has been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.

GARD : 20 Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSAN1E is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type 1

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type Iii 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 1
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

Diseases related to Hereditary Sensory and Autonomic Neuropathy Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 32.7 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory, type ie 32.6 SPTLC2 SPTLC1 DNMT1
3 neuropathy, hereditary sensory and autonomic, type ic 32.5 SPTLC3 SPTLC2 SPTLC1
4 neuropathy, hereditary sensory, type id 32.5 SPTLC2 SPTLC1 ATL1
5 neuropathy, hereditary sensory and autonomic, type ia 32.3 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1
6 neuropathy, hereditary sensory and autonomic, type iia 32.3 SPTLC2 SPTLC1 RETREG1
7 autonomic neuropathy 31.4 SPTLC2 SPTLC1 RETREG1
8 neuropathy 30.9 SPTLC3 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL3
9 hereditary sensory neuropathy 30.7 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 RETREG1
10 sensory peripheral neuropathy 30.6 SPTLC3 SPTLC1 RETREG1
11 charcot-marie-tooth disease 30.6 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL1
12 neuropathy, hereditary sensory, type if 11.4
13 neuropathy, hereditary sensory and autonomic, type iii 10.9
14 indifference to pain, congenital, autosomal recessive 10.9
15 neuropathy, hereditary sensory and autonomic, type iib 10.9
16 neuropathy, hereditary sensory, type iic 10.9
17 neuropathy, hereditary sensory and autonomic, type vi 10.9
18 sptlc1-related hereditary sensory neuropathy 10.4
19 supranuclear palsy, progressive, 1 10.3
20 stuttering 10.3
21 cerebral atrophy 10.3
22 phosphoglycerate dehydrogenase deficiency 10.3 SPTSSB SPTSSA
23 spastic paraplegia 3a 10.2 ATL3 ATL2 ATL1
24 charcot-marie-tooth disease, axonal, type 2b 10.2
25 tooth disease 10.2
26 axonal neuropathy 10.2
27 cataract 10.2
28 hereditary neuropathies 10.2
29 tremor 10.2
30 neuropathy, hereditary sensory and autonomic, type v 10.2 SPTLC1 RETREG1
31 nephrotic syndrome, type 14 10.0 SPTSSA SPTLC2 SPTLC1 KDSR DEGS1 CERS3
32 charcot-marie-tooth disease and deafness 10.0 SPTLC2 SPTLC1 RETREG1
33 3-methylglutaconic aciduria, type iii 10.0
34 agammaglobulinemia 10.0
35 autosomal dominant cerebellar ataxia 9.9
36 alzheimer disease 9.9
37 erythermalgia, primary 9.9
38 ataxia and polyneuropathy, adult-onset 9.9
39 frontotemporal dementia 9.9
40 charcot-marie-tooth disease, demyelinating, type 1c 9.9
41 branchiootic syndrome 1 9.9
42 alzheimer disease 9 9.9
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
44 hereditary ataxia 9.9
45 dementia 9.9
46 peripheral nervous system disease 9.9
47 narcolepsy 9.9

Graphical network of the top 20 diseases related to Hereditary Sensory and Autonomic Neuropathy Type 1:



Diseases related to Hereditary Sensory and Autonomic Neuropathy Type 1

Symptoms & Phenotypes for Hereditary Sensory and Autonomic Neuropathy Type 1

MGI Mouse Phenotypes related to Hereditary Sensory and Autonomic Neuropathy Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ATL1 CERK CERS3 CERS5 CERS6 CERT1
2 homeostasis/metabolism MP:0005376 9.44 ATL2 ATL3 CERK CERS3 CERS5 CERS6

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Type 1

Drugs for Hereditary Sensory and Autonomic Neuropathy Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy of L-Serine in Subjects With Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo

Search NIH Clinical Center for Hereditary Sensory and Autonomic Neuropathy Type 1

Genetic Tests for Hereditary Sensory and Autonomic Neuropathy Type 1

Genetic tests related to Hereditary Sensory and Autonomic Neuropathy Type 1:

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type 1 29 SPTLC1

Anatomical Context for Hereditary Sensory and Autonomic Neuropathy Type 1

Publications for Hereditary Sensory and Autonomic Neuropathy Type 1

Articles related to Hereditary Sensory and Autonomic Neuropathy Type 1:

(show all 28)
# Title Authors PMID Year
1
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. 6 61
31509666 2019
2
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. 61 6
30955194 2019
3
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. 6 61
23658386 2013
4
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 6
30866134 2019
5
ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F. 6
30680846 2019
6
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. 6
25567748 2015
7
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. 6
24736309 2014
8
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 6
24459106 2014
9
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 6
21194679 2011
10
1-Deoxysphingolipids cause autophagosome and lysosome accumulation and trigger NLRP3 inflammasome activation. 61
32835606 2020
11
Canonical and 1-Deoxy(methyl) Sphingoid Bases: Tackling the Effect of the Lipid Structure on Membrane Biophysical Properties. 61
32369370 2020
12
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity. 61
31138658 2019
13
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 61
30626650 2019
14
Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction. 61
27881717 2017
15
A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency. 61
27277422 2016
16
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 61
26681808 2016
17
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. 61
26395456 2015
18
Natural history and biomarkers in hereditary sensory neuropathy type 1. 61
25042817 2015
19
Lowering plasma 1-deoxysphingolipids improves neuropathy in diabetic rats. 61
25277395 2015
20
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. 61
25033457 2014
21
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 61
24247255 2014
22
Structural, mechanistic and regulatory studies of serine palmitoyltransferase. 61
22616865 2012
23
The debut of a rational treatment for an inherited neuropathy? 61
22045569 2011
24
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. 61
22045570 2011
25
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 61
16364956 2006
26
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. 61
15546589 2004
27
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. 61
8659534 1996
28
Class II antigen expression in peripheral neuropathies. 61
1649260 1991

Variations for Hereditary Sensory and Autonomic Neuropathy Type 1

ClinVar genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Type 1:

6 (show top 50) (show all 495)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTLC2 NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) SNV Pathogenic 487224 rs775437084 14:78043194-78043194 14:77576851-77576851
2 ATL3 NM_015459.5(ATL3):c.575A>G (p.Tyr192Cys) SNV Pathogenic 97070 rs587777108 11:63414022-63414022 11:63646550-63646550
3 ATL3 NM_015459.5(ATL3):c.1013C>G (p.Pro338Arg) SNV Pathogenic 932960 11:63403028-63403028 11:63635556-63635556
4 SPTLC2 NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) SNV Pathogenic 208302 rs864621998 14:78043197-78043197 14:77576854-77576854
5 SPTLC2 NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) SNV Pathogenic 430350 rs1131691917 14:78043212-78043212 14:77576869-77576869
6 SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 9:94842327-94842327 9:92080045-92080045
7 ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) SNV Pathogenic 30579 rs1555365597 14:51089912-51089912 14:50623194-50623194
8 ATL1 NM_001127713.1(ATL1):c.196G>C (p.Glu66Gln) SNV Pathogenic 30580 rs200314808 14:51054710-51054710 14:50587992-50587992
9 ATL1 NM_015915.5(ATL1):c.976del (p.Val326fs) Deletion Pathogenic 637513 rs1595619553 14:51087429-51087429 14:50620711-50620711
10 SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 9:94809543-94809543 9:92047261-92047261
11 SPTLC2 NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) SNV Pathogenic 637418 rs1594986869 14:78021668-78021668 14:77555325-77555325
12 ATL1 NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) SNV Pathogenic 4346 rs119476046 14:51080061-51080061 14:50613343-50613343
13 SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic 4801 rs119482083 9:94830377-94830377 9:92068095-92068095
14 SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 9:94842326-94842326 9:92080044-92080044
15 SPTLC2 NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) SNV Likely pathogenic 4797 rs267607089 14:78021674-78021674 14:77555331-77555331
16 ATL1 NM_015915.5(ATL1):c.1111dup (p.Met371fs) Duplication Likely pathogenic 638382 rs1566733927 14:51089951-51089952 14:50623233-50623234
17 SPTLC1 NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) SNV Likely pathogenic 209194 rs797045071 9:94809463-94809463 9:92047181-92047181
18 SPTLC1 NM_006415.4(SPTLC1):c.919A>G (p.Met307Val) SNV Uncertain significance 456606 rs1554706531 9:94809960-94809960 9:92047678-92047678
19 SPTLC1 NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser) SNV Uncertain significance 456600 rs1554706429 9:94809520-94809520 9:92047238-92047238
20 SPTLC1 NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys) SNV Uncertain significance 526705 rs745684683 9:94800571-94800571 9:92038289-92038289
21 SPTLC1 NM_006415.4(SPTLC1):c.386del (p.Gly129fs) Deletion Uncertain significance 526707 rs1554711394 9:94842339-94842339 9:92080057-92080057
22 SPTLC1 NM_006415.4(SPTLC1):c.745A>G (p.Met249Val) SNV Uncertain significance 526708 rs1279567220 9:94817722-94817722 9:92055440-92055440
23 SPTLC1 NM_006415.4(SPTLC1):c.1012T>A (p.Ser338Thr) SNV Uncertain significance 456599 rs1554706430 9:94809523-94809523 9:92047241-92047241
24 SPTLC1 NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp) SNV Uncertain significance 456602 rs1298409243 9:94800625-94800625 9:92038343-92038343
25 SPTLC1 NM_006415.4(SPTLC1):c.51T>G (p.Leu17=) SNV Uncertain significance 456603 rs1400591449 9:94877602-94877602 9:92115320-92115320
26 ATL3 NM_015459.5(ATL3):c.651_652delinsTT (p.Pro218Ser) Indel Uncertain significance 641805 rs1590729113 11:63411700-63411701 11:63644228-63644229
27 SPTLC2 NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) Microsatellite Uncertain significance 681064 rs577436926 14:78082800-78082801 14:77616457-77616458
28 ATL1 NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) SNV Uncertain significance 976249 14:51099014-51099014 14:50632296-50632296
29 SPTLC2 NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) SNV Uncertain significance 471491 rs765520235 14:77984500-77984500 14:77518157-77518157
30 SPTLC1 NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val) SNV Uncertain significance 566564 rs749175480 9:94821535-94821535 9:92059253-92059253
31 SPTLC1 NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly) SNV Uncertain significance 566591 rs763065459 9:94809969-94809969 9:92047687-92047687
32 SPTLC1 NM_006415.4(SPTLC1):c.428-1G>C SNV Uncertain significance 567474 rs776829771 9:94830381-94830381 9:92068099-92068099
33 SPTLC1 NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr) SNV Uncertain significance 567643 rs766476735 9:94809971-94809971 9:92047689-92047689
34 SPTLC1 NM_006415.4(SPTLC1):c.608G>A (p.Arg203His) SNV Uncertain significance 568972 rs778759719 9:94821543-94821543 9:92059261-92059261
35 SPTLC1 NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 573770 rs990974255 9:94809481-94809481 9:92047199-92047199
36 SPTLC1 NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser) SNV Uncertain significance 576941 rs527406013 9:94830351-94830351 9:92068069-92068069
37 SPTLC1 NM_006415.4(SPTLC1):c.139del (p.Gln47fs) Deletion Uncertain significance 580492 rs772853294 9:94874763-94874763 9:92112481-92112481
38 SPTLC1 NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr) SNV Uncertain significance 581855 rs1463416767 9:94797092-94797092 9:92034810-92034810
39 SPTLC1 NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) SNV Uncertain significance 426856 rs779810169 9:94830336-94830336 9:92068054-92068054
40 SPTLC1 NM_006415.4(SPTLC1):c.632A>G (p.His211Arg) SNV Uncertain significance 640011 rs1587929348 9:94821519-94821519 9:92059237-92059237
41 SPTLC1 NM_006415.4(SPTLC1):c.139C>T (p.Gln47Ter) SNV Uncertain significance 642855 rs748093641 9:94874763-94874763 9:92112481-92112481
42 SPTLC1 NM_006415.4(SPTLC1):c.888+5G>T SNV Uncertain significance 657032 rs760514210 9:94812237-94812237 9:92049955-92049955
43 SPTLC1 NM_006415.4(SPTLC1):c.707G>C (p.Arg236Pro) SNV Uncertain significance 657595 rs765970732 9:94817760-94817760 9:92055478-92055478
44 SPTLC1 NM_006415.4(SPTLC1):c.342C>A (p.Asn114Lys) SNV Uncertain significance 657806 rs752029386 9:94843164-94843164 9:92080882-92080882
45 SPTLC1 NM_006415.4(SPTLC1):c.71A>G (p.His24Arg) SNV Uncertain significance 660001 rs1587626442 9:94874831-94874831 9:92112549-92112549
46 SPTLC1 NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu) SNV Uncertain significance 661844 rs944769022 9:94812319-94812319 9:92050037-92050037
47 SPTLC1 NC_000009.12:g.(?_92032445)_(92115390_?)dup Duplication Uncertain significance 832517 9:94794727-94877672
48 SPTLC1 NM_006415.4(SPTLC1):c.362C>G (p.Ala121Gly) SNV Uncertain significance 834492 9:94842363-94842363 9:92080081-92080081
49 SPTLC1 NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu) SNV Uncertain significance 838070 9:94843177-94843177 9:92080895-92080895
50 SPTLC1 NM_006415.4(SPTLC1):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 838490 9:94800580-94800580 9:92038298-92038298

Expression for Hereditary Sensory and Autonomic Neuropathy Type 1

Search GEO for disease gene expression data for Hereditary Sensory and Autonomic Neuropathy Type 1.

Pathways for Hereditary Sensory and Autonomic Neuropathy Type 1

GO Terms for Hereditary Sensory and Autonomic Neuropathy Type 1

Cellular components related to Hereditary Sensory and Autonomic Neuropathy Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
2 integral component of membrane GO:0016021 10.19 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
3 endoplasmic reticulum membrane GO:0005789 9.89 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
4 serine C-palmitoyltransferase complex GO:0017059 9.55 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1
5 endoplasmic reticulum GO:0005783 9.55 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
6 endoplasmic reticulum tubular network membrane GO:0098826 9.54 ATL3 ATL2 ATL1
7 endoplasmic reticulum tubular network GO:0071782 9.4 ATL3 ATL1

Biological processes related to Hereditary Sensory and Autonomic Neuropathy Type 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.03 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
2 ceramide biosynthetic process GO:0046513 9.9 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
3 endoplasmic reticulum organization GO:0007029 9.72 SPTSSB CERT1 ATL3 ATL2 ATL1
4 protein homooligomerization GO:0051260 9.71 ATL3 ATL2 ATL1
5 sphingolipid metabolic process GO:0006665 9.7 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
6 biosynthetic process GO:0009058 9.58 SPTLC3 SPTLC2 SPTLC1
7 ceramide metabolic process GO:0006672 9.55 CERT1 CERK
8 sphingosine biosynthetic process GO:0046512 9.54 SPTLC3 SPTLC2 SPTLC1
9 ceramide transport GO:0035627 9.52 PLEKHA8 CERT1
10 ceramide 1-phosphate transport GO:1902389 9.51 PLEKHA8 CERT1
11 sphingomyelin biosynthetic process GO:0006686 9.49 SPTLC2 SAMD8
12 positive regulation of lipophagy GO:1904504 9.48 SPTLC2 SPTLC1
13 endoplasmic reticulum tubular network membrane organization GO:1990809 9.46 ATL2 ATL1
14 sphingolipid biosynthetic process GO:0030148 9.44 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
15 ER to Golgi ceramide transport GO:0035621 9.43 PLEKHA8 CERT1

Molecular functions related to Hereditary Sensory and Autonomic Neuropathy Type 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.97 SPTLC3 SPTLC2 SPTLC1 SAMD8 DNMT1 CERS6
2 transferase activity, transferring acyl groups GO:0016746 9.67 SPTLC3 SPTLC2 SPTLC1
3 pyridoxal phosphate binding GO:0030170 9.54 SPTLC3 SPTLC2 SPTLC1
4 phosphatidylinositol-4-phosphate binding GO:0070273 9.48 PLEKHA8 CERT1
5 ceramide 1-phosphate transporter activity GO:1902388 9.46 PLEKHA8 CERT1
6 ceramide 1-phosphate binding GO:1902387 9.43 PLEKHA8 CERT1
7 ceramide binding GO:0097001 9.4 PLEKHA8 CERT1
8 N-acyltransferase activity GO:0016410 9.33 CERS6 CERS5 CERS3
9 sphingolipid delta-4 desaturase activity GO:0042284 9.26 DEGS2 DEGS1
10 sphingosine N-acyltransferase activity GO:0050291 9.13 CERS6 CERS5 CERS3
11 serine C-palmitoyltransferase activity GO:0004758 9.02 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1

Sources for Hereditary Sensory and Autonomic Neuropathy Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....