HSAN1
MCID: HRD201
MIFTS: 35

Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 60 15
Hereditary Sensory and Autonomic Neuropathy Type I 12 60
Hsan1 12 60
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 54
Hereditary Sensory Neuropathy with Hearing Loss and Dementia 54
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 54
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 54
Hereditary Sensory and Autonomic Neuropathy Type 1e 54
Hereditary Sensory and Autonomic Neuropathy Type Ie 74
Hereditary Sensory Autonomic Neuropathy, Type 1 74
Hereditary Sensory Neuropathy Type Ie 54
Hsan1e 54
Hsn1e 54
Hsnie 54

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0070162
MeSH 45 D009477
SNOMED-CT 69 52647008 87920002
ICD10 via Orphanet 35 G60.8
UMLS via Orphanet 75 C0020071
Orphanet 60 ORPHA36386

Summaries for Hereditary Sensory and Autonomic Neuropathy Type 1

NIH Rare Diseases : 54 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.

MalaCards based summary : Hereditary Sensory and Autonomic Neuropathy Type 1, also known as hereditary sensory and autonomic neuropathy type i, is related to neuropathy, hereditary sensory and autonomic, type ic 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 Sphingolipid metabolism and Sphingolipid signaling pathway. The drug Serine has been mentioned in the context of this disorder.

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.

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Type 1

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

Neuropathy, Hereditary Sensory and Autonomic, Type Ia 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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type ic 32.3 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory, type ie 32.3 SPTLC2 SPTLC1 DNMT1
3 autonomic neuropathy 30.4 SPTLC2 SPTLC1 RETREG1
4 charcot-marie-tooth disease, axonal, type 2b 30.0 SULT2B1 SPTLC1
5 neuropathy 29.7 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL3
6 hereditary sensory neuropathy 29.4 SPTLC2 SPTLC1 RETREG1 DNMT1 ATL3 ATL1
7 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.5
8 neuropathy, hereditary sensory and autonomic, type ia 11.4
9 neuropathy, hereditary sensory, type id 11.4
10 neuropathy, hereditary sensory, type if 11.4
11 indifference to pain, congenital, autosomal recessive 11.1
12 neuropathy, hereditary sensory and autonomic, type iib 11.1
13 neuropathy, hereditary sensory, type iic 11.1
14 neuropathy, hereditary sensory and autonomic, type vi 11.1
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
16 dementia 10.1
17 charcot-marie-tooth disease 10.1
18 tooth disease 10.1
19 neuropathy - hereditary 10.0 SPTLC1 DNMT1
20 ataxia and polyneuropathy, adult-onset 10.0
21 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.0
22 aceruloplasminemia 10.0
23 autosomal dominant cerebellar ataxia 10.0
24 sensory peripheral neuropathy 10.0
25 narcolepsy 10.0
26 spastic paraplegia 3a 10.0 ATL3 ATL2 ATL1
27 hereditary spastic paraplegia 9.7 ATL3 ATL2 ATL1

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

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 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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Publications for Hereditary Sensory and Autonomic Neuropathy Type 1

Articles related to Hereditary Sensory and Autonomic Neuropathy Type 1:

# Title Authors Year
1
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. ( 30626650 )
2019
2
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( 26395456 )
2015
3
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. ( 23658386 )
2013
4
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). ( 16364956 )
2006
5
Hereditary sensory and autonomic neuropathy type I. ( 20944258 )
1997
6
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. ( 8659534 )
1996
7
Hereditary sensory and autonomic neuropathy type I (Thévenard's disease). ( 8837287 )
1996

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 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh37 Chromosome 9, 94809463: 94809463
2 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh38 Chromosome 9, 92047181: 92047181
3 SPTLC1 NM_006415.3(SPTLC1): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh37 Chromosome 9, 94842327: 94842327
4 SPTLC1 NM_006415.3(SPTLC1): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh38 Chromosome 9, 92080045: 92080045
5 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh37 Chromosome 9, 94830377: 94830377
6 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh38 Chromosome 9, 92068095: 92068095
7 SPTLC1 NM_006415.3(SPTLC1): c.1160G> C (p.Gly387Ala) single nucleotide variant Likely benign rs119482084 GRCh37 Chromosome 9, 94800624: 94800624
8 SPTLC1 NM_006415.3(SPTLC1): c.1160G> C (p.Gly387Ala) single nucleotide variant Likely benign rs119482084 GRCh38 Chromosome 9, 92038342: 92038342
9 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh37 Chromosome 9, 94842326: 94842326
10 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh38 Chromosome 9, 92080044: 92080044
11 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh37 Chromosome 9, 94809480: 94809480
12 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh38 Chromosome 9, 92047198: 92047198
13 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh37 Chromosome 9, 94830232: 94830232
14 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh38 Chromosome 9, 92067950: 92067950
15 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh37 Chromosome 9, 94812355: 94812355
16 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh38 Chromosome 9, 92050073: 92050073
17 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh37 Chromosome 9, 94871074: 94871074
18 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh38 Chromosome 9, 92108792: 92108792
19 SPTLC1 NM_006415.3(SPTLC1): c.1411G> A (p.Val471Ile) single nucleotide variant Benign/Likely benign rs141292904 GRCh37 Chromosome 9, 94794758: 94794758
20 SPTLC1 NM_006415.3(SPTLC1): c.1411G> A (p.Val471Ile) single nucleotide variant Benign/Likely benign rs141292904 GRCh38 Chromosome 9, 92032476: 92032476
21 SPTLC1 NM_006415.3(SPTLC1): c.*631G> C single nucleotide variant Uncertain significance rs1057515686 GRCh38 Chromosome 9, 92031834: 92031834
22 SPTLC1 NM_006415.3(SPTLC1): c.*631G> C single nucleotide variant Uncertain significance rs1057515686 GRCh37 Chromosome 9, 94794116: 94794116
23 SPTLC1 NM_006415.3(SPTLC1): c.*605T> C single nucleotide variant Uncertain significance rs1057515687 GRCh37 Chromosome 9, 94794142: 94794142
24 SPTLC1 NM_006415.3(SPTLC1): c.*605T> C single nucleotide variant Uncertain significance rs1057515687 GRCh38 Chromosome 9, 92031860: 92031860
25 SPTLC1 NM_006415.3(SPTLC1): c.*483A> G single nucleotide variant Likely benign rs541284488 GRCh37 Chromosome 9, 94794264: 94794264
26 SPTLC1 NM_006415.3(SPTLC1): c.*483A> G single nucleotide variant Likely benign rs541284488 GRCh38 Chromosome 9, 92031982: 92031982
27 SPTLC1 NM_006415.3(SPTLC1): c.*190A> C single nucleotide variant Likely benign rs552433019 GRCh37 Chromosome 9, 94794557: 94794557
28 SPTLC1 NM_006415.3(SPTLC1): c.*190A> C single nucleotide variant Likely benign rs552433019 GRCh38 Chromosome 9, 92032275: 92032275
29 SPTLC1 NM_006415.3(SPTLC1): c.1136+12A> G single nucleotide variant Benign rs76562923 GRCh37 Chromosome 9, 94808269: 94808269
30 SPTLC1 NM_006415.3(SPTLC1): c.1136+12A> G single nucleotide variant Benign rs76562923 GRCh38 Chromosome 9, 92045987: 92045987
31 SPTLC1 NM_006415.3(SPTLC1): c.387C> T (p.Gly129=) single nucleotide variant Benign/Likely benign rs141265918 GRCh37 Chromosome 9, 94842338: 94842338
32 SPTLC1 NM_006415.3(SPTLC1): c.387C> T (p.Gly129=) single nucleotide variant Benign/Likely benign rs141265918 GRCh38 Chromosome 9, 92080056: 92080056
33 SPTLC1 NM_006415.3(SPTLC1): c.*1009G> T single nucleotide variant Likely benign rs559735773 GRCh38 Chromosome 9, 92031456: 92031456
34 SPTLC1 NM_006415.3(SPTLC1): c.*1009G> T single nucleotide variant Likely benign rs559735773 GRCh37 Chromosome 9, 94793738: 94793738
35 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh37 Chromosome 9, 94793997: 94793997
36 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh38 Chromosome 9, 92031715: 92031715
37 SPTLC1 NM_006415.3(SPTLC1): c.*451G> A single nucleotide variant Uncertain significance rs868416931 GRCh37 Chromosome 9, 94794296: 94794296
38 SPTLC1 NM_006415.3(SPTLC1): c.*451G> A single nucleotide variant Uncertain significance rs868416931 GRCh38 Chromosome 9, 92032014: 92032014
39 SPTLC1 NM_006415.3(SPTLC1): c.*445A> G single nucleotide variant Likely benign rs7944 GRCh37 Chromosome 9, 94794302: 94794302
40 SPTLC1 NM_006415.3(SPTLC1): c.*445A> G single nucleotide variant Likely benign rs7944 GRCh38 Chromosome 9, 92032020: 92032020
41 SPTLC1 NM_006415.3(SPTLC1): c.*200G> T single nucleotide variant Uncertain significance rs1057515689 GRCh37 Chromosome 9, 94794547: 94794547
42 SPTLC1 NM_006415.3(SPTLC1): c.*200G> T single nucleotide variant Uncertain significance rs1057515689 GRCh38 Chromosome 9, 92032265: 92032265
43 SPTLC1 NM_006415.3(SPTLC1): c.*124A> G single nucleotide variant Likely benign rs189582528 GRCh37 Chromosome 9, 94794623: 94794623
44 SPTLC1 NM_006415.3(SPTLC1): c.*124A> G single nucleotide variant Likely benign rs189582528 GRCh38 Chromosome 9, 92032341: 92032341
45 SPTLC1 NM_006415.3(SPTLC1): c.1137-15_1137-14dupGT duplication Likely benign rs147137401 GRCh37 Chromosome 9, 94800661: 94800662
46 SPTLC1 NM_006415.3(SPTLC1): c.1137-15_1137-14dupGT duplication Likely benign rs147137401 GRCh38 Chromosome 9, 92038379: 92038380
47 SPTLC1 NM_006415.3(SPTLC1): c.58-9C> T single nucleotide variant Uncertain significance rs769188151 GRCh37 Chromosome 9, 94874853: 94874853
48 SPTLC1 NM_006415.3(SPTLC1): c.58-9C> T single nucleotide variant Uncertain significance rs769188151 GRCh38 Chromosome 9, 92112571: 92112571
49 SPTLC1 NM_006415.3(SPTLC1): c.-27C> T single nucleotide variant Uncertain significance rs558203491 GRCh37 Chromosome 9, 94877679: 94877679
50 SPTLC1 NM_006415.3(SPTLC1): c.-27C> T single nucleotide variant Uncertain significance rs558203491 GRCh38 Chromosome 9, 92115397: 92115397

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
11.53 SPTLC1 SPTLC2 SPTLC3
2 10.87 SPTLC1 SPTLC2 SPTLC3

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 endoplasmic reticulum membrane GO:0005789 9.61 ATL1 ATL2 ATL3 CYP4F3 RETREG1 RTN3
2 endoplasmic reticulum tubular network membrane GO:0098826 9.43 ATL1 ATL2 ATL3
3 serine C-palmitoyltransferase complex GO:0017059 9.33 SPTLC1 SPTLC2 SPTLC3
4 endoplasmic reticulum tubular network GO:0071782 9.32 ATL1 ATL3
5 endoplasmic reticulum GO:0005783 9.32 ATL1 ATL2 ATL3 CYP4F3 RETREG1 RTN3
6 integral component of membrane GO:0016021 10.02 ATL1 ATL2 ATL3 CYP4F3 RETREG1 RTN3

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 9.83 CYP4F3 SPTLC1 SPTLC2 SPTLC3 SULT2B1
2 protein homooligomerization GO:0051260 9.69 ATL1 ATL2 ATL3
3 sphingolipid biosynthetic process GO:0030148 9.54 SPTLC1 SPTLC2 SPTLC3
4 sensory perception of pain GO:0019233 9.52 PRDM12 RETREG1
5 ceramide biosynthetic process GO:0046513 9.49 SPTLC1 SPTLC2
6 sphingosine biosynthetic process GO:0046512 9.48 SPTLC1 SPTLC2
7 sphingomyelin biosynthetic process GO:0006686 9.46 SPTLC1 SPTLC2
8 sphingolipid metabolic process GO:0006665 9.43 SPTLC1 SPTLC2 SPTLC3
9 positive regulation of lipophagy GO:1904504 9.4 SPTLC1 SPTLC2
10 biosynthetic process GO:0009058 9.33 SPTLC1 SPTLC2 SPTLC3
11 endoplasmic reticulum tubular network membrane organization GO:1990809 9.32 ATL1 ATL2
12 endoplasmic reticulum organization GO:0007029 9.13 ATL1 ATL2 ATL3
13 sphinganine biosynthetic process GO:0046511 8.62 SPTLC1 SPTLC2

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 9.7 DNMT1 PRDM12 SPTLC1 SPTLC2 SPTLC3 SULT2B1
2 GTPase activity GO:0003924 9.5 ATL1 ATL2 ATL3
3 transferase activity, transferring acyl groups GO:0016746 9.43 SPTLC1 SPTLC2 SPTLC3
4 pyridoxal phosphate binding GO:0030170 9.13 SPTLC1 SPTLC2 SPTLC3
5 serine C-palmitoyltransferase activity GO:0004758 8.8 SPTLC1 SPTLC2 SPTLC3

Sources for Hereditary Sensory and Autonomic Neuropathy Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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