HSN1E
MCID: NRP041
MIFTS: 48

Neuropathy, Hereditary Sensory, Type Ie (HSN1E)

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

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Ie

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Ie:

Name: Neuropathy, Hereditary Sensory, Type Ie 57 13
Hereditary Sensory Neuropathy Type Ie 12 72 29 6
Hsn1e 57 12 58 72
Hereditary Sensory Neuropathy Type 1e 12 15
Hsn Ie 57 72
Hsan 1 20 6
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 58
Neuropathy, Hereditary Sensory, with Hearing Loss and Dementia 57
Neuropathy Hereditary Sensory with Hearing Loss and Dementia 72
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant 20
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 58
Hereditary Sensory and Autonomic Neuropathy Type Ie 70
Hereditary Sensory and Autonomic Neuropathy Type 1 20
Neuropathy Hereditary Sensory and Autonomic Type 1 20
Hereditary Sensory Autonomic Neuropathy, Type 1 70
Neuropathy, Sensory, Hereditary, Type Ie 39
Neuropathy, Hereditary Sensory, Type I 54
Hereditary Sensory Neuropathy Type 1 20
Neuropathy, Hereditary Sensory, 1e 72
Hsan1e 58
Hsn1 20

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory neuropathy-deafness-dementia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
onset of dementia in the thirties or forties
death in the fifth or sixth decade


HPO:

31
neuropathy, hereditary sensory, type ie:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070158
OMIM® 57 614116
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
ICD10 32 G60.8
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA456318
MedGen 41 C3279885
UMLS 70 C0020071 C3279885

Summaries for Neuropathy, Hereditary Sensory, Type Ie

GARD : 20 Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 ( HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3 ; HSN1C is caused by mutations in the SPTLC2 gene ; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Ie, also known as hereditary sensory neuropathy type ie, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Neuropathy, Hereditary Sensory, Type Ie is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways are Gene Expression and Chromatin Regulation / Acetylation. The drug Serine has been mentioned in the context of this disorder. Related phenotypes are sensorineural hearing impairment and irritability

Disease Ontology : 12 A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.

OMIM® : 57 Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400). (614116) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory, 1E: A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia.

Related Diseases for Neuropathy, Hereditary Sensory, Type Ie

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
Sptlc1-Related Hereditary Sensory Neuropathy

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 32.6 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory and autonomic, type ic 32.4 SPTLC2 SPTLC1
3 neuropathy, hereditary sensory and autonomic, type ia 32.4 SPTLC2 SPTLC1
4 neuropathy, hereditary sensory, type id 32.3 SPTLC2 SPTLC1
5 hereditary sensory and autonomic neuropathy type 1 31.6 SPTLC2 SPTLC1 DNMT1
6 hereditary sensory neuropathy 29.9 SPTLC2 SPTLC1 DNMT1
7 neuropathy, hereditary sensory and autonomic, type iia 11.4
8 neuropathy, hereditary sensory, type if 11.4
9 autonomic neuropathy 10.6
10 charcot-marie-tooth disease 10.4
11 sptlc1-related hereditary sensory neuropathy 10.4
12 charcot-marie-tooth disease, axonal, type 2b 10.2
13 tooth disease 10.2
14 axonal neuropathy 10.2
15 cataract 10.2
16 hereditary neuropathies 10.2
17 tremor 10.2
18 nephrotic syndrome, type 14 10.1 SPTLC2 SPTLC1
19 lymphosarcoma 10.1 DNMT3A DNMT1
20 testicular spermatocytic seminoma 10.1 DNMT3L DNMT3A
21 peripheral nervous system disease 10.1
22 avian influenza 9.9
23 weaver syndrome 9.9 NSD1 DNMT3L DNMT3A
24 ataxia and polyneuropathy, adult-onset 9.9
25 branchiootic syndrome 1 9.9
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
27 dementia 9.9
28 autosomal dominant cerebellar ataxia 9.9
29 sensory peripheral neuropathy 9.9
30 neuropathy 9.9
31 narcolepsy 9.9
32 adult syndrome 9.8 DNMT3A DNMT1
33 fetal alcohol spectrum disorder 9.8 MECP2 DNMT1
34 hyperoxaluria, primary, type i 9.8 MECP2 DNMT3A DNMT1
35 beckwith-wiedemann syndrome 9.8 NSD1 DNMT3L DNMT3A DNMT1
36 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 9.7 UHRF1 MECP2 DNMT3L DNMT1
37 alpha-thalassemia 9.7 NSD1 MECP2 DNMT3L
38 primary hyperoxaluria 9.7 MECP2 DNMT3L DNMT3A DNMT1
39 cartilage-hair hypoplasia 9.7 UHRF1 TRDMT1 DNMT3L DNMT3A DNMT1
40 mental retardation, autosomal dominant 30 9.6 MT-TF MECP2
41 alpha thalassemia-x-linked intellectual disability syndrome 9.6 NSD1 MECP2 DNMT3L DNMT3A
42 sotos syndrome 1 9.6 NSD1 MECP2 DNMT3L DNMT3A
43 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 MTERF1 MT-TF MT-RNR2
44 immunodeficiency-centromeric instability-facial anomalies syndrome 9.3 UHRF1 TRDMT1 MECP2 DNMT3L DNMT3A DNMT1

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



Diseases related to Neuropathy, Hereditary Sensory, Type Ie

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Ie

Human phenotypes related to Neuropathy, Hereditary Sensory, Type Ie:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 irritability 31 HP:0000737
3 sensory neuropathy 31 HP:0000763
4 osteomyelitis 31 HP:0002754
5 hyporeflexia 31 HP:0001265
6 memory impairment 31 HP:0002354
7 cerebral atrophy 31 HP:0002059
8 dementia 31 HP:0000726
9 apathy 31 HP:0000741
10 impulsivity 31 HP:0100710
11 excessive daytime somnolence 31 HP:0001262
12 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
13 delirium 31 HP:0031258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
irritability
apathy
impulsivity
delirium
somnolence
more
Neurologic Peripheral Nervous System:
hyporeflexia
sensory neuropathy affecting all modalities primarily affecting the lower limbs with some mild upper limb involvement
lancinating pains (2 patients)
almost complete loss of myelinated fibers seen on sural nerve biopsy
loss of unmyelinated fibers

Head And Neck Ears:
hearing loss, sensorineural

Skeletal Feet:
osteomyelitis
ulceration of the toes
amputation

Neurologic Central Nervous System:
cerebral atrophy
frontal lobe atrophy
memory impairment, progressive
dementia, frontal lobe
decreased speech
more

Clinical features from OMIM®:

614116 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory, Type Ie:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.56 DNMT1 DNMT3A DNMT3L MBD3 MECP2 MTERF1
2 embryo MP:0005380 9.17 DNMT1 DNMT3A DNMT3L MECP2 NSD1 SPTLC1

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Ie

Drugs for Neuropathy, Hereditary Sensory, Type Ie (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 Neuropathy, Hereditary Sensory, Type Ie

Genetic Tests for Neuropathy, Hereditary Sensory, Type Ie

Genetic tests related to Neuropathy, Hereditary Sensory, Type Ie:

# Genetic test Affiliating Genes
1 Hereditary Sensory Neuropathy Type Ie 29 DNMT1

Anatomical Context for Neuropathy, Hereditary Sensory, Type Ie

Publications for Neuropathy, Hereditary Sensory, Type Ie

Articles related to Neuropathy, Hereditary Sensory, Type Ie:

(show all 29)
# Title Authors PMID Year
1
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. 6 57
23365052 2013
2
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 57 6
21532572 2011
3
Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. 6 57
10210919 1999
4
Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. 57 6
7898717 1995
5
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. 6 54
18018475 2007
6
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 6 54
16364956 2006
7
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 54 6
11242114 2001
8
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
9
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 6
26681808 2016
10
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. 6
25678562 2015
11
Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1. 6
25584079 2015
12
Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts. 6
24673574 2014
13
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. 6
24727570 2014
14
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 6
24247255 2014
15
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. 6
23454272 2013
16
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 6
22302274 2012
17
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. 6
21618344 2011
18
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. 6
20097765 2010
19
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. 6
19923297 2009
20
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 6
19651702 2009
21
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
22
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. 6
16210380 2005
23
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. 6
15546589 2004
24
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. 6
12417569 2002
25
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. 6
11242106 2001
26
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). 61
30911858 2019
27
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated? 61
25815005 2015
28
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. 54
15037712 2004
29
Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. 54
11781309 2002

Variations for Neuropathy, Hereditary Sensory, Type Ie

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type Ie:

6 (show top 50) (show all 509)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 GRCh37: 9:94842326-94842326
GRCh38: 9:92080044-92080044
2 SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 GRCh37: 9:94842327-94842327
GRCh38: 9:92080045-92080045
3 SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic 4801 rs119482083 GRCh37: 9:94830377-94830377
GRCh38: 9:92068095-92068095
4 SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 GRCh37: 9:94809543-94809543
GRCh38: 9:92047261-92047261
5 DNMT1 NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) Indel Pathogenic 29683 rs199473691 GRCh37: 19:10265705-10265707
GRCh38: 19:10155029-10155031
6 DNMT1 NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) SNV Pathogenic 162188 rs199473692 GRCh37: 19:10265694-10265694
GRCh38: 19:10155018-10155018
7 DNMT1 NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) SNV Likely pathogenic 29682 rs199473690 GRCh37: 19:10265693-10265693
GRCh38: 19:10155017-10155017
8 DNMT1 NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) SNV Likely pathogenic 654394 rs1599366542 GRCh37: 19:10265705-10265705
GRCh38: 19:10155029-10155029
9 SPTLC1 NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) SNV Likely pathogenic 209194 rs797045071 GRCh37: 9:94809463-94809463
GRCh38: 9:92047181-92047181
10 DNMT1 NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) SNV Conflicting interpretations of pathogenicity 706949 rs750916721 GRCh37: 19:10277298-10277298
GRCh38: 19:10166622-10166622
11 DNMT1 NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) SNV Conflicting interpretations of pathogenicity 539599 rs529074384 GRCh37: 19:10270717-10270717
GRCh38: 19:10160041-10160041
12 DNMT1 NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) SNV Conflicting interpretations of pathogenicity 539613 rs199832007 GRCh37: 19:10259613-10259613
GRCh38: 19:10148937-10148937
13 DNMT1 NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) SNV Conflicting interpretations of pathogenicity 327923 rs764496230 GRCh37: 19:10290873-10290873
GRCh38: 19:10180197-10180197
14 DNMT1 NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) SNV Conflicting interpretations of pathogenicity 234461 rs138841970 GRCh37: 19:10291065-10291065
GRCh38: 19:10180389-10180389
15 DNMT1 NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) SNV Conflicting interpretations of pathogenicity 327919 rs143287044 GRCh37: 19:10273374-10273374
GRCh38: 19:10162698-10162698
16 DNMT1 NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) SNV Conflicting interpretations of pathogenicity 376891 rs148038464 GRCh37: 19:10254644-10254644
GRCh38: 19:10143968-10143968
17 DNMT1 NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) SNV Conflicting interpretations of pathogenicity 834643 GRCh37: 19:10248628-10248628
GRCh38: 19:10137952-10137952
18 DNMT1 NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) SNV Conflicting interpretations of pathogenicity 438391 rs757460628 GRCh37: 19:10250860-10250860
GRCh38: 19:10140184-10140184
19 DNMT1 NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) SNV Conflicting interpretations of pathogenicity 246583 rs146601335 GRCh37: 19:10291089-10291089
GRCh38: 19:10180413-10180413
20 DNMT1 NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) SNV Conflicting interpretations of pathogenicity 327924 rs377146699 GRCh37: 19:10291061-10291061
GRCh38: 19:10180385-10180385
21 DNMT1 NM_001130823.3(DNMT1):c.3948+4G>A SNV Conflicting interpretations of pathogenicity 327890 rs774356396 GRCh37: 19:10250348-10250348
GRCh38: 19:10139672-10139672
22 DNMT1 NM_001130823.3(DNMT1):c.413C>G (p.Pro138Arg) SNV Uncertain significance 850374 GRCh37: 19:10291058-10291058
GRCh38: 19:10180382-10180382
23 DNMT1 NM_001130823.3(DNMT1):c.4424A>G (p.His1475Arg) SNV Uncertain significance 854010 GRCh37: 19:10247826-10247826
GRCh38: 19:10137150-10137150
24 DNMT1 NM_001130823.3(DNMT1):c.1708G>A (p.Ala570Thr) SNV Uncertain significance 857728 GRCh37: 19:10265386-10265386
GRCh38: 19:10154710-10154710
25 SPTLC1 NM_006415.4(SPTLC1):c.165+4C>T SNV Uncertain significance 860758 GRCh37: 9:94874733-94874733
GRCh38: 9:92112451-92112451
26 SPTLC1 NM_006415.4(SPTLC1):c.1136+6T>C SNV Uncertain significance 862251 GRCh37: 9:94808275-94808275
GRCh38: 9:92045993-92045993
27 DNMT1 NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) SNV Uncertain significance 472269 rs776461147 GRCh37: 19:10252751-10252751
GRCh38: 19:10142075-10142075
28 SPTLC1 NM_006415.4(SPTLC1):c.1012T>A (p.Ser338Thr) SNV Uncertain significance 456599 rs1554706430 GRCh37: 9:94809523-94809523
GRCh38: 9:92047241-92047241
29 DNMT1 NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) SNV Uncertain significance 472274 rs775139340 GRCh37: 19:10291064-10291064
GRCh38: 19:10180388-10180388
30 DNMT1 NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) SNV Uncertain significance 573940 rs1020363356 GRCh37: 19:10288011-10288011
GRCh38: 19:10177335-10177335
31 SPTLC1 NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) SNV Uncertain significance 576860 rs779810169 GRCh37: 9:94830336-94830336
GRCh38: 9:92068054-92068054
32 DNMT1 NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) SNV Uncertain significance 579807 rs1401130665 GRCh37: 19:10291169-10291169
GRCh38: 19:10180493-10180493
33 DNMT1 NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) SNV Uncertain significance 638986 rs146467216 GRCh37: 19:10265001-10265001
GRCh38: 19:10154325-10154325
34 DNMT1 NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) SNV Uncertain significance 618605 rs375225009 GRCh37: 19:10248608-10248608
GRCh38: 19:10137932-10137932
35 DNMT1 NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg) SNV Uncertain significance 649462 rs374440818 GRCh37: 19:10288010-10288010
GRCh38: 19:10177334-10177334
36 DNMT1 NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) SNV Uncertain significance 373572 rs747559452 GRCh37: 19:10305520-10305520
GRCh38: 19:10194844-10194844
37 DNMT1 NM_001130823.3(DNMT1):c.2152G>A (p.Asp718Asn) SNV Uncertain significance 834664 GRCh37: 19:10262187-10262187
GRCh38: 19:10151511-10151511
38 SPTLC1 NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu) SNV Uncertain significance 838070 GRCh37: 9:94843177-94843177
GRCh38: 9:92080895-92080895
39 DNMT1 NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu) SNV Uncertain significance 838352 GRCh37: 19:10305571-10305571
GRCh38: 19:10194895-10194895
40 DNMT1 NM_001130823.3(DNMT1):c.2090G>A (p.Arg697Gln) SNV Uncertain significance 844826 GRCh37: 19:10262453-10262453
GRCh38: 19:10151777-10151777
41 DNMT1 NM_001130823.3(DNMT1):c.1046C>T (p.Thr349Met) SNV Uncertain significance 846156 GRCh37: 19:10270737-10270737
GRCh38: 19:10160061-10160061
42 DNMT1 NM_001130823.3(DNMT1):c.3210G>A (p.Lys1070=) SNV Uncertain significance 847823 GRCh37: 19:10252803-10252803
GRCh38: 19:10142127-10142127
43 DNMT1 NM_001130823.3(DNMT1):c.946G>A (p.Glu316Lys) SNV Uncertain significance 848529 GRCh37: 19:10273405-10273405
GRCh38: 19:10162729-10162729
44 DNMT1 NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) SNV Uncertain significance 450129 rs777416084 GRCh37: 19:10257085-10257085
GRCh38: 19:10146409-10146409
45 DNMT1 NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) SNV Uncertain significance 546126 rs368960099 GRCh37: 19:10277309-10277309
GRCh38: 19:10166633-10166633
46 DNMT1 NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) SNV Uncertain significance 245596 rs746143694 GRCh37: 19:10259591-10259591
GRCh38: 19:10148915-10148915
47 SPTLC1 NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) SNV Uncertain significance 426856 rs779810169 GRCh37: 9:94830336-94830336
GRCh38: 9:92068054-92068054
48 DNMT1 NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) SNV Uncertain significance 246305 rs554894511 GRCh37: 19:10291130-10291130
GRCh38: 19:10180454-10180454
49 DNMT1 NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) SNV Uncertain significance 808443 rs1599371468 GRCh37: 19:10270423-10270423
GRCh38: 19:10159747-10159747
50 SPTLC1 NM_006415.4(SPTLC1):c.250A>G (p.Ile84Val) SNV Uncertain significance 998940 GRCh37: 9:94871032-94871032
GRCh38: 9:92108750-92108750

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, Type Ie:

72
# Symbol AA change Variation ID SNP ID
1 DNMT1 p.Tyr495Cys VAR_065966 rs199473690

Expression for Neuropathy, Hereditary Sensory, Type Ie

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, Type Ie.

Pathways for Neuropathy, Hereditary Sensory, Type Ie

GO Terms for Neuropathy, Hereditary Sensory, Type Ie

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

# Name GO ID Score Top Affiliating Genes
1 euchromatin GO:0000791 9.26 UHRF1 DNMT3A
2 replication fork GO:0005657 9.16 UHRF1 DNMT1
3 heterochromatin GO:0000792 9.02 UHRF1 MECP2 MBD3 DNMT3A DNMT1
4 serine C-palmitoyltransferase complex GO:0017059 8.96 SPTLC2 SPTLC1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 UHRF1 NSD1 MECP2 MBD3 DNMT3A DNMT1
2 regulation of gene expression GO:0010468 9.83 MECP2 DNMT3L DNMT3A DNMT1
3 chromatin organization GO:0006325 9.81 UHRF1 NSD1 DNMT3A DNMT1
4 methylation GO:0032259 9.71 TRDMT1 NSD1 DNMT3A DNMT1
5 biosynthetic process GO:0009058 9.58 SPTLC2 SPTLC1
6 ceramide biosynthetic process GO:0046513 9.57 SPTLC2 SPTLC1
7 DNA methylation involved in gamete generation GO:0043046 9.56 DNMT3L DNMT3A
8 histone methylation GO:0016571 9.55 NSD1 MECP2
9 sphingosine biosynthetic process GO:0046512 9.54 SPTLC2 SPTLC1
10 maintenance of DNA methylation GO:0010216 9.49 UHRF1 DNMT1
11 methylation-dependent chromatin silencing GO:0006346 9.48 MBD3 DNMT3A
12 positive regulation of lipophagy GO:1904504 9.46 SPTLC2 SPTLC1
13 DNA methylation involved in embryo development GO:0043045 9.43 DNMT3A DNMT1
14 DNA methylation GO:0006306 9.33 DNMT3L DNMT3A DNMT1
15 positive regulation of DNA methylation GO:1905643 9.32 MECP2 DNMT3L
16 C-5 methylation of cytosine GO:0090116 9.26 DNMT3A DNMT1
17 regulation of gene expression by genetic imprinting GO:0006349 9.13 MECP2 DNMT3L DNMT3A
18 DNA methylation on cytosine GO:0032776 8.8 DNMT3L DNMT3A DNMT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.95 UHRF1 TRDMT1 SPTLC2 SPTLC1 NSD1 DNMT3A
2 chromatin binding GO:0003682 9.65 NSD1 MECP2 MBD3 DNMT3A DNMT1
3 methyltransferase activity GO:0008168 9.62 TRDMT1 NSD1 DNMT3A DNMT1
4 transcription corepressor activity GO:0003714 9.61 NSD1 MECP2 DNMT3A
5 serine C-palmitoyltransferase activity GO:0004758 9.37 SPTLC2 SPTLC1
6 DNA-methyltransferase activity GO:0009008 9.16 DNMT3A DNMT1
7 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.96 DNMT3A DNMT1
8 methyl-CpG binding GO:0008327 8.92 UHRF1 MECP2 MBD3 DNMT1

Sources for Neuropathy, Hereditary Sensory, Type Ie

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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