HSAN1
MCID: HRD201
MIFTS: 41

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, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 15
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 52 25
Hereditary Sensory and Autonomic Neuropathy Type Ie 25 71
Hereditary Sensory and Autonomic Neuropathy Type I 12 58
Hereditary Sensory Neuropathy Type Ie 52 25
Hsan1e 52 25
Hsan1 12 58
Hsnie 52 25
Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss 25
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 52
Hereditary Sensory Neuropathy with Hearing Loss and Dementia 52
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 52
Hereditary Sensory and Autonomic Neuropathy Type 1e 52
Hereditary Sensory Autonomic Neuropathy, Type 1 71
Dnmt1-Complex Disorder 25
Hsn Ie 25
Hsn1e 52

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 43 D009477
SNOMED-CT 67 230553002
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

Genetics Home Reference : 25 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, type ie and neuropathy, hereditary sensory and autonomic, type ic. 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. Affiliated tissues include bone, and related phenotypes are growth/size/body region 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.

NIH Rare Diseases : 52 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 33.5 SPTLC2 SPTLC1 DNMT1
2 neuropathy, hereditary sensory and autonomic, type ic 33.3 SPTLC3 SPTLC2 SPTLC1 NAA50
3 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 33.1 SPTLC2 SPTLC1 NAA50
4 neuropathy, hereditary sensory and autonomic, type ia 33.0 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 NAA50
5 neuropathy, hereditary sensory, type id 32.9 SPTLC2 ATL1
6 neuropathy, hereditary sensory and autonomic, type iia 32.7 SPTLC2 SPTLC1 RETREG1 NAA50
7 neuropathy, hereditary sensory and autonomic, type iib 32.2 RETREG1 NAA50
8 autonomic neuropathy 31.5 SPTLC2 SPTLC1 RETREG1
9 neuropathy 31.0 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL3 ATL1
10 sensory peripheral neuropathy 30.6 SPTLC1 RETREG1 NAA50 ATL3
11 charcot-marie-tooth disease 30.5 SPTLC2 SPTLC1 RETREG1 NAA50 DNMT1 ATL1
12 hereditary sensory neuropathy 30.4 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 RETREG1
13 charcot-marie-tooth disease, axonal, type 2b 30.3 SPTLC1 NAA50
14 neuropathy, hereditary sensory, type if 11.5
15 neuropathy, hereditary sensory and autonomic, type iii 11.2
16 indifference to pain, congenital, autosomal recessive 11.2
17 neuropathy, hereditary sensory, type iic 11.2
18 neuropathy, hereditary sensory and autonomic, type vi 11.2
19 neurogenic arthropathy 10.4 SPTLC1 NAA50
20 neuropathy, hereditary sensory and autonomic, type v 10.4 SPTLC1 RETREG1 NAA50
21 spastic paraplegia 3a 10.4 ATL3 ATL2 ATL1
22 phosphoglycerate dehydrogenase deficiency 10.3 SPTSSB SPTSSA
23 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.3 NAA50 DNMT1
24 supranuclear palsy, progressive, 1 10.3
25 stuttering 10.3
26 cerebral atrophy 10.3
27 osteomyelitis 10.3 SPTLC2 SPTLC1 RETREG1
28 sptlc1-related hereditary sensory neuropathy 10.3
29 charcot-marie-tooth disease and deafness 10.3 SPTLC2 SPTLC1 RETREG1 NAA50
30 aggressive systemic mastocytosis 10.2 CERS6 CERS5 CERK
31 neuropathy, hereditary sensory and autonomic, type viii 10.2 RETREG1 NAA50
32 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 10.2 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL1
33 autosomal dominant cerebellar ataxia 10.2
34 tooth disease 10.1
35 axonal neuropathy 10.1
36 cataract 10.1
37 hereditary neuropathies 10.1
38 tremor 10.1
39 nephrotic syndrome, type 14 10.1 SPTSSA SPTLC2 SPTLC1 KDSR DEGS1 CERS3
40 alzheimer disease 10.1
41 erythermalgia, primary 10.1
42 ataxia and polyneuropathy, adult-onset 10.1
43 frontotemporal dementia 10.1
44 charcot-marie-tooth disease, demyelinating, type 1c 10.1
45 branchiootic syndrome 1 10.1
46 alzheimer disease 9 10.1
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
48 hereditary ataxia 10.1
49 dementia 10.1
50 peripheral nervous system disease 10.1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CERK CERS3 CERS5 CERS6 CERT1 DEGS1
2 homeostasis/metabolism MP:0005376 9.4 CERK CERS3 CERS5 CERS6 CERT1 DEGS1

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

Anatomical Context for Hereditary Sensory and Autonomic Neuropathy Type 1

MalaCards organs/tissues related to Hereditary Sensory and Autonomic Neuropathy Type 1:

40
Bone

Publications for Hereditary Sensory and Autonomic Neuropathy Type 1

Articles related to Hereditary Sensory and Autonomic Neuropathy Type 1:

(show all 37)
# Title Authors PMID Year
1
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. 61 6
31509666 2019
2
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. 6 61
30955194 2019
3
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 61 6
26681808 2016
4
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. 6 61
23658386 2013
5
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 6
30866134 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
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 6
24459106 2014
8
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. 6
23454272 2013
9
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 6
21194679 2011
10
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. 6
20504773 2010
11
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 6
19651702 2009
12
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. 6
19132419 2009
13
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 6
18077166 2008
14
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. 6
15037712 2004
15
SPTLC1-Related Hereditary Sensory Neuropathy 6
20301564 2002
16
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. 6
11479835 2001
17
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. 6
11242106 2001
18
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 6
11242114 2001
19
SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. 6
14152213 1964
20
[Acropathia ulcero-mutilans, Charcot-Marie type of amyotrophic frusta & alexia in a pair of monozygotic twins]. 6
13646503 1958
21
Canonical and 1-Deoxy(methyl) Sphingoid Bases: Tackling the Effect of the Lipid Structure on Membrane Biophysical Properties. 61
32369370 2020
22
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity. 61
31138658 2019
23
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 61
30626650 2019
24
Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction. 61
27881717 2017
25
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
26
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. 61
26395456 2015
27
Natural history and biomarkers in hereditary sensory neuropathy type 1. 61
25042817 2015
28
Lowering plasma 1-deoxysphingolipids improves neuropathy in diabetic rats. 61
25277395 2015
29
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. 61
25033457 2014
30
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 61
24247255 2014
31
Structural, mechanistic and regulatory studies of serine palmitoyltransferase. 61
22616865 2012
32
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. 61
22045570 2011
33
The debut of a rational treatment for an inherited neuropathy? 61
22045569 2011
34
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 61
16364956 2006
35
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. 61
15546589 2004
36
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. 61
8659534 1996
37
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)SNV Pathogenic 4803 rs119482082 9:94842326-94842326 9:92080044-92080044
2 SPTLC1 NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe)SNV Pathogenic 4804 rs267607087 9:94809543-94809543 9:92047261-92047261
3 SPTLC1 NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val)SNV Pathogenic 4805 rs267607088 9:94809480-94809480 9:92047198-92047198
4 SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)SNV Pathogenic 4800 rs119482081 9:94842327-94842327 9:92080045-92080045
5 SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)SNV Pathogenic 372788 rs267607087 9:94809543-94809543 9:92047261-92047261
6 SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)SNV Pathogenic/Likely pathogenic 4801 rs119482083 9:94830377-94830377 9:92068095-92068095
7 SPTLC1 NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln)SNV Likely pathogenic 209194 rs797045071 9:94809463-94809463 9:92047181-92047181
8 SPTLC1 NM_006415.4(SPTLC1):c.112_114CTT[1] (p.Leu39del)short repeat Likely pathogenic 802489 9:94874785-94874787 9:92112503-92112505
9 SPTLC1 NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu)SNV Conflicting interpretations of pathogenicity 704277 9:94842337-94842337 9:92080055-92080055
10 SPTLC1 NM_006415.4(SPTLC1):c.165+4C>TSNV Conflicting interpretations of pathogenicity 860758 9:94874733-94874733 9:92112451-92112451
11 SPTLC1 NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)SNV Conflicting interpretations of pathogenicity 449988 rs142153571 9:94874782-94874782 9:92112500-92112500
12 SPTLC1 NM_006415.4(SPTLC1):c.58-9C>TSNV Conflicting interpretations of pathogenicity 367552 rs769188151 9:94874853-94874853 9:92112571-92112571
13 SPTLC1 NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)SNV Conflicting interpretations of pathogenicity 388906 rs748723735 9:94794767-94794767 9:92032485-92032485
14 SPTLC1 NM_006415.4(SPTLC1):c.1329-9T>CSNV Conflicting interpretations of pathogenicity 380134 rs778388513 9:94794849-94794849 9:92032567-92032567
15 SPTLC1 NM_006415.4(SPTLC1):c.640A>G (p.Met214Val)SNV Conflicting interpretations of pathogenicity 367549 rs781435924 9:94821511-94821511 9:92059229-92059229
16 SPTLC1 NM_006415.4(SPTLC1):c.*503C>TSNV Uncertain significance 367535 rs994723205 9:94794244-94794244 9:92031962-92031962
17 SPTLC1 NM_006415.4(SPTLC1):c.-27C>TSNV Uncertain significance 367553 rs558203491 9:94877679-94877679 9:92115397-92115397
18 SPTLC1 NM_006415.4(SPTLC1):c.*200G>TSNV Uncertain significance 367539 rs1057515689 9:94794547-94794547 9:92032265-92032265
19 SPTLC1 NM_006415.4(SPTLC1):c.*750C>TSNV Uncertain significance 367532 rs768395365 9:94793997-94793997 9:92031715-92031715
20 SPTLC1 NM_006415.4(SPTLC1):c.*451G>ASNV Uncertain significance 367537 rs868416931 9:94794296-94794296 9:92032014-92032014
21 SPTLC1 NM_006415.4(SPTLC1):c.*1093G>ASNV Uncertain significance 367530 rs1057515685 9:94793654-94793654 9:92031372-92031372
22 SPTLC1 NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe)SNV Uncertain significance 234709 rs764460003 9:94871074-94871074 9:92108792-92108792
23 SPTLC1 NM_006415.4(SPTLC1):c.889-5G>ASNV Uncertain significance 245877 rs763731160 9:94809995-94809995 9:92047713-92047713
24 SPTLC1 NM_006415.4(SPTLC1):c.*631G>CSNV Uncertain significance 367533 rs1057515686 9:94794116-94794116 9:92031834-92031834
25 SPTLC1 NM_006415.4(SPTLC1):c.*605T>CSNV Uncertain significance 367534 rs1057515687 9:94794142-94794142 9:92031860-92031860
26 SPTLC1 NM_006415.4(SPTLC1):c.51T>G (p.Leu17=)SNV Uncertain significance 456603 rs1400591449 9:94877602-94877602 9:92115320-92115320
27 SPTLC1 NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp)SNV Uncertain significance 456602 rs1298409243 9:94800625-94800625 9:92038343-92038343
28 SPTLC1 NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser)SNV Uncertain significance 456600 rs1554706429 9:94809520-94809520 9:92047238-92047238
29 SPTLC1 NM_006415.4(SPTLC1):c.1012T>A (p.Ser338Thr)SNV Uncertain significance 456599 rs1554706430 9:94809523-94809523 9:92047241-92047241
30 SPTLC1 NM_006415.4(SPTLC1):c.919A>G (p.Met307Val)SNV Uncertain significance 456606 rs1554706531 9:94809960-94809960 9:92047678-92047678
31 SPTLC1 NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)SNV Uncertain significance 526711 rs1215612827 9:94809550-94809550 9:92047268-92047268
32 SPTLC1 NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)SNV Uncertain significance 526710 rs768841574 9:94809950-94809950 9:92047668-92047668
33 SPTLC1 NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys)SNV Uncertain significance 526705 rs745684683 9:94800571-94800571 9:92038289-92038289
34 SPTLC1 NM_006415.4(SPTLC1):c.745A>G (p.Met249Val)SNV Uncertain significance 526708 rs1279567220 9:94817722-94817722 9:92055440-92055440
35 SPTLC1 NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His)SNV Uncertain significance 526709 rs567541925 9:94800570-94800570 9:92038288-92038288
36 SPTLC1 NM_006415.4(SPTLC1):c.386del (p.Gly129fs)deletion Uncertain significance 526707 rs1554711394 9:94842339-94842339 9:92080057-92080057
37 SPTLC1 NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)SNV Uncertain significance 582614 rs150792865 9:94794784-94794784 9:92032502-92032502
38 SPTLC1 NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr)SNV Uncertain significance 567643 rs766476735 9:94809971-94809971 9:92047689-92047689
39 SPTLC1 NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val)SNV Uncertain significance 566564 rs749175480 9:94821535-94821535 9:92059253-92059253
40 SPTLC1 NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser)SNV Uncertain significance 576860 rs779810169 9:94830336-94830336 9:92068054-92068054
41 SPTLC1 NM_006415.4(SPTLC1):c.428-1G>CSNV Uncertain significance 567474 rs776829771 9:94830381-94830381 9:92068099-92068099
42 SPTLC1 NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr)SNV Uncertain significance 573770 rs990974255 9:94809481-94809481 9:92047199-92047199
43 SPTLC1 NM_006415.4(SPTLC1):c.608G>A (p.Arg203His)SNV Uncertain significance 568972 rs778759719 9:94821543-94821543 9:92059261-92059261
44 SPTLC1 NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr)SNV Uncertain significance 581855 rs1463416767 9:94797092-94797092 9:92034810-92034810
45 SPTLC1 NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly)SNV Uncertain significance 566591 rs763065459 9:94809969-94809969 9:92047687-92047687
46 SPTLC1 NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr)SNV Uncertain significance 573814 rs143232538 9:94843196-94843196 9:92080914-92080914
47 SPTLC1 NM_006415.4(SPTLC1):c.139del (p.Gln47fs)deletion Uncertain significance 580492 rs772853294 9:94874763-94874763 9:92112481-92112481
48 SPTLC1 NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser)SNV Uncertain significance 576941 rs527406013 9:94830351-94830351 9:92068069-92068069
49 SPTLC1 NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)SNV Uncertain significance 651220 9:94800616-94800616 9:92038334-92038334
50 SPTLC1 NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu)SNV Uncertain significance 661844 9:94812319-94812319 9:92050037-92050037

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 KDSR
2
Show member pathways
11.84 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 KDSR
3 11.63 SPTLC3 SPTLC2 SPTLC1 DEGS2 DEGS1 CERS6

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 10.32 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 9.5 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 13)
# 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 sphingolipid metabolic process GO:0006665 9.7 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
5 protein homooligomerization GO:0051260 9.69 ATL3 ATL2 ATL1
6 biosynthetic process GO:0009058 9.63 SPTLC3 SPTLC2 SPTLC1
7 sphingosine biosynthetic process GO:0046512 9.58 SPTLC3 SPTLC2 SPTLC1
8 sphingomyelin biosynthetic process GO:0006686 9.54 SPTLC2 SPTLC1 SAMD8
9 ceramide metabolic process GO:0006672 9.52 CERT1 CERK
10 positive regulation of lipophagy GO:1904504 9.49 SPTLC2 SPTLC1
11 endoplasmic reticulum tubular network membrane organization GO:1990809 9.48 ATL2 ATL1
12 sphingolipid biosynthetic process GO:0030148 9.44 SPTSSB SPTSSA SPTLC3 SPTLC2 SPTLC1 SAMD8
13 sphinganine biosynthetic process GO:0046511 9.43 SPTLC2 SPTLC1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 SPTLC3 SPTLC2 SPTLC1 SAMD8 NAA50 DNMT1
2 transferase activity, transferring acyl groups GO:0016746 9.67 SPTLC3 SPTLC2 SPTLC1 NAA50
3 pyridoxal phosphate binding GO:0030170 9.58 SPTLC3 SPTLC2 SPTLC1
4 N-acyltransferase activity GO:0016410 9.43 CERS6 CERS5 CERS3
5 sphingolipid delta-4 desaturase activity GO:0042284 9.32 DEGS2 DEGS1
6 sphingosine N-acyltransferase activity GO:0050291 9.13 CERS6 CERS5 CERS3
7 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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