HSN1E
MCID: NRP041
MIFTS: 41

Neuropathy, Hereditary Sensory, Type Ie (HSN1E)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental 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 25 75 29 6
Hsn1e 57 12 59 75
Neuropathy Hereditary Sensory and Autonomic Type 1 53 29 6
Hsn Ie 57 25 75
Hereditary Sensory and Autonomic Neuropathy Type Ie 25 73
Hereditary Sensory Neuropathy Type 1e 12 15
Hsan1e 25 59
Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss 25
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome 59
Neuropathy, Hereditary Sensory, with Hearing Loss and Dementia 57
Neuropathy Hereditary Sensory with Hearing Loss and Dementia 75
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant 53
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 25
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome 59
Hereditary Sensory and Autonomic Neuropathy Type 1 53
Hereditary Sensory Autonomic Neuropathy, Type 1 73
Neuropathy, Sensory, Hereditary, Type Ie 40
Neuropathy, Sensory, Hereditary, Type I 40
Neuropathy, Hereditary Sensory, Type I 55
Hereditary Sensory Neuropathy Type 1 53
Neuropathy, Hereditary Sensory, 1e 75
Dnmt1-Complex Disorder 25
Hsan 1 53
Hsnie 25
Hsn1 53

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory neuropathy-deafness-dementia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult;

OMIM:

57
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:

32
neuropathy, hereditary sensory, type ie:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuropathy, Hereditary Sensory, Type Ie

NIH Rare Diseases : 53 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 ic and hereditary sensory and autonomic neuropathy type 1. An important gene associated with Neuropathy, Hereditary Sensory, Type Ie is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include bone, and 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.

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).

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)

UniProtKB/Swiss-Prot : 75 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
Sensory Neuropathy Type 1

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type ic 31.7 SPTLC1 SPTLC2
2 hereditary sensory and autonomic neuropathy type 1 31.0 DNMT1 SPTLC1 SPTLC2
3 autonomic neuropathy 30.4 SPTLC1 SPTLC2
4 neuropathy 30.0 DNMT1 SPTLC1 SPTLC2
5 hereditary sensory neuropathy 30.0 DNMT1 SPTLC1 SPTLC2
6 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.4
7 dnmt1-related dementia, deafness, and sensory neuropathy 11.4
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 11.0
12 neuropathy, hereditary sensory and autonomic, type iib 11.0
13 neuropathy, hereditary sensory, type iic 11.0
14 neuropathy, hereditary sensory and autonomic, type vi 11.0
15 sensory neuropathy type 1 10.5
16 dementia 10.3
17 sensory peripheral neuropathy 10.3
18 charcot-marie-tooth disease, axonal, type 2b 10.1
19 charcot-marie-tooth disease 10.1
20 tooth disease 10.1
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
22 neuropathy - hereditary 9.6 DNMT1 SPTLC1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
irritability
impulsivity
apathy
somnolence
delirium
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 irritability 32 HP:0000737
3 sensory neuropathy 32 HP:0000763
4 memory impairment 32 HP:0002354
5 dementia 32 HP:0000726
6 osteomyelitis 32 HP:0002754
7 hyporeflexia 32 HP:0001265
8 impulsivity 32 HP:0100710
9 cerebral atrophy 32 HP:0002059
10 apathy 32 HP:0000741
11 excessive daytime somnolence 32 HP:0001262
12 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
13 delirium 32 HP:0031258

GenomeRNAi Phenotypes related to Neuropathy, Hereditary Sensory, Type Ie according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.56 SPTLC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.56 DNMT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.56 SPTLC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.56 SPTLC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.56 DNMT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.56 DNMT1 SPTLC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.56 DNMT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 SPTLC2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.5 DNMT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.5 SPTLC2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.5 SPTLC2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.5 DNMT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.5 DNMT1 SPTLC2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.5 SPTLC2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 DNMT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.5 SPTLC2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.5 SPTLC2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.5 DNMT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 SPTLC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 SPTLC2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.5 DNMT1

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Ie

Search Clinical Trials , 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 Neuropathy Hereditary Sensory and Autonomic Type 1 29 SPTLC1
2 Hereditary Sensory Neuropathy Type Ie 29 DNMT1

Anatomical Context for Neuropathy, Hereditary Sensory, Type Ie

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, Type Ie:

41
Bone

Publications for Neuropathy, Hereditary Sensory, Type Ie

Articles related to Neuropathy, Hereditary Sensory, Type Ie:

# Title Authors Year
1
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. ( 30342480 )
2018

Variations for Neuropathy, Hereditary Sensory, Type Ie

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

75
# Symbol AA change Variation ID SNP ID
1 DNMT1 p.Tyr495Cys VAR_065966 rs199473690

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

6 (show top 50) (show all 406)
# 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 DNMT1 NM_001130823.2(DNMT1): c.1532A> G (p.Tyr511Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473690 GRCh37 Chromosome 19, 10265693: 10265693
12 DNMT1 NM_001130823.2(DNMT1): c.1532A> G (p.Tyr511Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473690 GRCh38 Chromosome 19, 10155017: 10155017
13 DNMT1 NM_001130823.2(DNMT1): c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) indel Pathogenic rs199473691 GRCh37 Chromosome 19, 10265705: 10265707
14 DNMT1 NM_001130823.2(DNMT1): c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) indel Pathogenic rs199473691 GRCh38 Chromosome 19, 10155029: 10155031
15 DNMT1 NM_001130823.2(DNMT1): c.206G> A (p.Arg69His) single nucleotide variant Benign/Likely benign rs61750053 GRCh38 Chromosome 19, 10180797: 10180797
16 DNMT1 NM_001130823.2(DNMT1): c.206G> A (p.Arg69His) single nucleotide variant Benign/Likely benign rs61750053 GRCh37 Chromosome 19, 10291473: 10291473
17 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh37 Chromosome 9, 94830232: 94830232
18 SPTLC1 NM_006415.3(SPTLC1): c.560+16G> C single nucleotide variant Benign rs73512337 GRCh38 Chromosome 9, 92067950: 92067950
19 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh37 Chromosome 9, 94812355: 94812355
20 SPTLC1 NM_006415.3(SPTLC1): c.781-6A> G single nucleotide variant Benign/Likely benign rs138268337 GRCh38 Chromosome 9, 92050073: 92050073
21 DNMT1 NM_001130823.2(DNMT1): c.1531T> C (p.Tyr511His) single nucleotide variant Pathogenic rs199473692 GRCh37 Chromosome 19, 10265694: 10265694
22 DNMT1 NM_001130823.2(DNMT1): c.1531T> C (p.Tyr511His) single nucleotide variant Pathogenic rs199473692 GRCh38 Chromosome 19, 10155018: 10155018
23 DNMT1 NM_001130823.2(DNMT1): c.891+8C> T single nucleotide variant Benign/Likely benign rs117294281 GRCh37 Chromosome 19, 10277266: 10277266
24 DNMT1 NM_001130823.2(DNMT1): c.891+8C> T single nucleotide variant Benign/Likely benign rs117294281 GRCh38 Chromosome 19, 10166590: 10166590
25 DNMT1 NM_001130823.2(DNMT1): c.150C> T (p.His50=) single nucleotide variant Conflicting interpretations of pathogenicity rs146112081 GRCh37 Chromosome 19, 10291529: 10291529
26 DNMT1 NM_001130823.2(DNMT1): c.150C> T (p.His50=) single nucleotide variant Conflicting interpretations of pathogenicity rs146112081 GRCh38 Chromosome 19, 10180853: 10180853
27 DNMT1 NM_001130823.2(DNMT1): c.3156C> T (p.His1052=) single nucleotide variant Conflicting interpretations of pathogenicity rs141856197 GRCh37 Chromosome 19, 10252857: 10252857
28 DNMT1 NM_001130823.2(DNMT1): c.3156C> T (p.His1052=) single nucleotide variant Conflicting interpretations of pathogenicity rs141856197 GRCh38 Chromosome 19, 10142181: 10142181
29 DNMT1 NM_001130823.2(DNMT1): c.4428T> G (p.His1476Gln) single nucleotide variant Benign/Likely benign rs142647321 GRCh37 Chromosome 19, 10247822: 10247822
30 DNMT1 NM_001130823.2(DNMT1): c.4428T> G (p.His1476Gln) single nucleotide variant Benign/Likely benign rs142647321 GRCh38 Chromosome 19, 10137146: 10137146
31 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh37 Chromosome 9, 94809463: 94809463
32 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh38 Chromosome 9, 92047181: 92047181
33 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh37 Chromosome 9, 94871074: 94871074
34 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh38 Chromosome 9, 92108792: 92108792
35 DNMT1 NM_001130823.2(DNMT1): c.919A> G (p.Lys307Glu) single nucleotide variant Uncertain significance rs148831705 GRCh38 Chromosome 19, 10163333: 10163333
36 DNMT1 NM_001130823.2(DNMT1): c.919A> G (p.Lys307Glu) single nucleotide variant Uncertain significance rs148831705 GRCh37 Chromosome 19, 10274009: 10274009
37 DNMT1 NM_001130823.2(DNMT1): c.731G> A (p.Gly244Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs150999369 GRCh38 Chromosome 19, 10173127: 10173127
38 DNMT1 NM_001130823.2(DNMT1): c.731G> A (p.Gly244Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs150999369 GRCh37 Chromosome 19, 10283803: 10283803
39 DNMT1 NM_001130823.2(DNMT1): c.406C> T (p.Arg136Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138841970 GRCh38 Chromosome 19, 10180389: 10180389
40 DNMT1 NM_001130823.2(DNMT1): c.406C> T (p.Arg136Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138841970 GRCh37 Chromosome 19, 10291065: 10291065
41 DNMT1 NM_001130823.2(DNMT1): c.2689A> G (p.Lys897Glu) single nucleotide variant Uncertain significance rs746143694 GRCh38 Chromosome 19, 10148915: 10148915
42 DNMT1 NM_001130823.2(DNMT1): c.2689A> G (p.Lys897Glu) single nucleotide variant Uncertain significance rs746143694 GRCh37 Chromosome 19, 10259591: 10259591
43 DNMT1 NM_001130823.2(DNMT1): c.382C> A (p.Pro128Thr) single nucleotide variant Uncertain significance rs146601335 GRCh38 Chromosome 19, 10180413: 10180413
44 DNMT1 NM_001130823.2(DNMT1): c.382C> A (p.Pro128Thr) single nucleotide variant Uncertain significance rs146601335 GRCh37 Chromosome 19, 10291089: 10291089
45 DNMT1 NM_001130823.2(DNMT1): c.3939C> T (p.Gly1313=) single nucleotide variant Benign/Likely benign rs142903301 GRCh37 Chromosome 19, 10250361: 10250361
46 DNMT1 NM_001130823.2(DNMT1): c.3939C> T (p.Gly1313=) single nucleotide variant Benign/Likely benign rs142903301 GRCh38 Chromosome 19, 10139685: 10139685
47 DNMT1 NM_001130823.2(DNMT1): c.493+8C> T single nucleotide variant Likely benign rs138998574 GRCh38 Chromosome 19, 10180179: 10180179
48 DNMT1 NM_001130823.2(DNMT1): c.493+8C> T single nucleotide variant Likely benign rs138998574 GRCh37 Chromosome 19, 10290855: 10290855
49 DNMT1 NM_001130823.2(DNMT1): c.290A> G (p.His97Arg) single nucleotide variant Benign rs16999593 GRCh37 Chromosome 19, 10291181: 10291181
50 DNMT1 NM_001130823.2(DNMT1): c.290A> G (p.His97Arg) single nucleotide variant Benign rs16999593 GRCh38 Chromosome 19, 10180505: 10180505

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 SPTLC1 SPTLC2
2 10.7 SPTLC1 SPTLC2

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 serine C-palmitoyltransferase complex GO:0017059 8.62 SPTLC1 SPTLC2

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

# Name GO ID Score Top Affiliating Genes
1 sphingolipid biosynthetic process GO:0030148 9.43 SPTLC1 SPTLC2
2 sphingolipid metabolic process GO:0006665 9.4 SPTLC1 SPTLC2
3 biosynthetic process GO:0009058 9.37 SPTLC1 SPTLC2
4 ceramide biosynthetic process GO:0046513 9.32 SPTLC1 SPTLC2
5 sphingosine biosynthetic process GO:0046512 9.26 SPTLC1 SPTLC2
6 sphingomyelin biosynthetic process GO:0006686 9.16 SPTLC1 SPTLC2
7 positive regulation of lipophagy GO:1904504 8.96 SPTLC1 SPTLC2
8 sphinganine biosynthetic process GO:0046511 8.62 SPTLC1 SPTLC2

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 9.43 DNMT1 SPTLC1 SPTLC2
2 transferase activity, transferring acyl groups GO:0016746 9.16 SPTLC1 SPTLC2
3 pyridoxal phosphate binding GO:0030170 8.96 SPTLC1 SPTLC2
4 serine C-palmitoyltransferase activity GO:0004758 8.62 SPTLC1 SPTLC2

Sources for Neuropathy, Hereditary Sensory, Type Ie

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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30 HGMD
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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