HSAN1
MCID: HRD201
MIFTS: 36

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 59 15
Hereditary Sensory and Autonomic Neuropathy Type I 12 59
Hsan1 12 59
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 53
Hereditary Sensory Neuropathy with Hearing Loss and Dementia 53
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 53
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 53
Hereditary Sensory and Autonomic Neuropathy Type 1e 53
Hereditary Sensory and Autonomic Neuropathy Type Ie 73
Hereditary Sensory Autonomic Neuropathy, Type 1 73
Hereditary Sensory Neuropathy Type Ie 53
Hsan1e 53
Hsn1e 53
Hsnie 53

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0070162
MeSH 44 D009477
SNOMED-CT 68 52647008 87920002
Orphanet 59 ORPHA36386
UMLS via Orphanet 74 C0020071
ICD10 via Orphanet 34 G60.8

Summaries for Hereditary Sensory and Autonomic Neuropathy Type 1

NIH Rare Diseases : 53 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. Affiliated tissues include skin and eye.

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 24)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type ic 32.2 SPTLC1 SPTLC2
2 neuropathy, hereditary sensory, type ie 32.1 DNMT1 SPTLC1 SPTLC2
3 autonomic neuropathy 30.9 SPTLC1 SPTLC2
4 neuropathy 30.2 ATL3 DNMT1 SPTLC1 SPTLC2
5 charcot-marie-tooth disease, axonal, type 2b 30.1 SPTLC1 SULT2B1
6 hereditary sensory neuropathy 30.0 ATL1 ATL3 DNMT1 SPTLC1 SPTLC2
7 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.4
8 dnmt1-related dementia, deafness, and sensory neuropathy 11.4
9 neuropathy, hereditary sensory and autonomic, type ia 11.4
10 neuropathy, hereditary sensory, type id 11.4
11 neuropathy, hereditary sensory, type if 11.4
12 indifference to pain, congenital, autosomal recessive 11.0
13 neuropathy, hereditary sensory and autonomic, type iib 11.0
14 neuropathy, hereditary sensory, type iic 11.0
15 neuropathy, hereditary sensory and autonomic, type vi 11.0
16 sensory peripheral neuropathy 10.3
17 charcot-marie-tooth disease 10.1
18 tooth disease 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 dementia 10.1
21 spastic paraplegia 3a 10.1 ATL1 ATL3
22 neuropathy - hereditary 9.9 DNMT1 SPTLC1
23 charcot-marie-tooth disease, demyelinating, type 1d 9.8 MYCN SULT2B1
24 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.8 MYCN SULT2B1

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

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:

41
Skin, Eye

Publications for Hereditary Sensory and Autonomic Neuropathy Type 1

Articles related to Hereditary Sensory and Autonomic Neuropathy Type 1:

# Title Authors Year
1
Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1. ( 26395456 )
2015
2
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. ( 23658386 )
2013
3
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). ( 16364956 )
2006
4
Hereditary sensory and autonomic neuropathy type I. ( 20944258 )
1997
5
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. ( 8659534 )
1996
6
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.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh37 Chromosome 9, 94842327: 94842327
2 SPTLC1 NM_006415.3(SPTLC1): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh38 Chromosome 9, 92080045: 92080045
3 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh37 Chromosome 9, 94830377: 94830377
4 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh38 Chromosome 9, 92068095: 92068095
5 SPTLC1 NM_006415.3(SPTLC1): c.1160G> C (p.Gly387Ala) single nucleotide variant Likely benign rs119482084 GRCh37 Chromosome 9, 94800624: 94800624
6 SPTLC1 NM_006415.3(SPTLC1): c.1160G> C (p.Gly387Ala) single nucleotide variant Likely benign rs119482084 GRCh38 Chromosome 9, 92038342: 92038342
7 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh37 Chromosome 9, 94842326: 94842326
8 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh38 Chromosome 9, 92080044: 92080044
9 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh37 Chromosome 9, 94809480: 94809480
10 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh38 Chromosome 9, 92047198: 92047198
11 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh37 Chromosome 9, 94830232: 94830232
12 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh38 Chromosome 9, 92067950: 92067950
13 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh37 Chromosome 9, 94812355: 94812355
14 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh38 Chromosome 9, 92050073: 92050073
15 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh37 Chromosome 9, 94809463: 94809463
16 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh38 Chromosome 9, 92047181: 92047181
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 GRCh37 Chromosome 9, 94794116: 94794116
22 SPTLC1 NM_006415.3(SPTLC1): c.*631G> C single nucleotide variant Uncertain significance rs1057515686 GRCh38 Chromosome 9, 92031834: 92031834
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 GRCh37 Chromosome 9, 94793738: 94793738
34 SPTLC1 NM_006415.3(SPTLC1): c.*1009G> T single nucleotide variant Likely benign rs559735773 GRCh38 Chromosome 9, 92031456: 92031456
35 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh38 Chromosome 9, 92031715: 92031715
36 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh37 Chromosome 9, 94793997: 94793997
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 9.63 ATL1 ATL3 CYP4F3 SPTLC1 SPTLC2 SPTLC3
2 endoplasmic reticulum GO:0005783 9.5 ATL1 ATL3 CYP4F3 SPTLC1 SPTLC2 SPTLC3
3 endoplasmic reticulum tubular network GO:0071782 9.32 ATL1 ATL3
4 endoplasmic reticulum tubular network membrane GO:0098826 9.26 ATL1 ATL3
5 serine C-palmitoyltransferase complex GO:0017059 8.8 SPTLC1 SPTLC2 SPTLC3

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.72 CYP4F3 SPTLC1 SPTLC2 SPTLC3 SULT2B1
2 endoplasmic reticulum organization GO:0007029 9.48 ATL1 ATL3
3 ceramide biosynthetic process GO:0046513 9.46 SPTLC1 SPTLC2
4 sphingosine biosynthetic process GO:0046512 9.43 SPTLC1 SPTLC2
5 sphingolipid biosynthetic process GO:0030148 9.43 SPTLC1 SPTLC2 SPTLC3
6 sphingomyelin biosynthetic process GO:0006686 9.4 SPTLC1 SPTLC2
7 positive regulation of lipophagy GO:1904504 9.37 SPTLC1 SPTLC2
8 sphingolipid metabolic process GO:0006665 9.33 SPTLC1 SPTLC2 SPTLC3
9 biosynthetic process GO:0009058 9.13 SPTLC1 SPTLC2 SPTLC3
10 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 transferase activity, transferring acyl groups GO:0016746 9.43 SPTLC1 SPTLC2 SPTLC3
3 pyridoxal phosphate binding GO:0030170 9.13 SPTLC1 SPTLC2 SPTLC3
4 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 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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