HSAN1C
MCID: NRP040
MIFTS: 43

Neuropathy, Hereditary Sensory and Autonomic, Type Ic (HSAN1C)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Ic 57 13 70
Hereditary Sensory and Autonomic Neuropathy Type Ic 12 29 6
Neuropathy, Hereditary Sensory, Type Ic 57 29 6
Hsan1c 57 12 72
Hereditary Sensory and Autonomic Neuropathy Type 1c 12 15
Hsan Ic 57 72
Hsn Ic 57 72
Hsn1c 57 72
Neuropathy, Sensory and Autonomic, Hereditary, Type Ic 39
Neuropathy, Hereditary Sensory and Autonomic, 1c 72
Neuropathy, Hereditary Sensory, Type Ic; Hsn1c 57
Hereditary Sensory Neuropathy Type Ic 72

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
variable age at onset (range first to third decade)


HPO:

31
neuropathy, hereditary sensory and autonomic, type ic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070157
OMIM® 57 613640
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
MedGen 41 C3150896
UMLS 70 C3150896

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

OMIM® : 57 Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by Rotthier et al., 2010, Gantner et al., 2019, and Triplett et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400). (613640) (Updated 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Ic, also known as hereditary sensory and autonomic neuropathy type ic, is related to neuropathy, hereditary sensory, type ie and autonomic neuropathy, and has symptoms including dysesthesia An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ic is SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include eye, and related phenotypes are skin ulcer and osteomyelitis

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory and autonomic, 1C: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness.

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

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 Neuropathy, Hereditary Sensory and Autonomic, Type Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 31.6 SPTLC2 SPTLC1
2 autonomic neuropathy 30.7 SPTLC2 SPTLC1
3 hereditary sensory neuropathy 30.3 SPTLC3 SPTLC2 SPTLC1
4 sensory peripheral neuropathy 30.2 SPTLC3 SPTLC1 LITAF
5 neuropathy 29.2 SPTLC3 SPTLC2 SPTLC1 SH3TC2 MYH14 LITAF
6 hereditary sensory and autonomic neuropathy type 1 29.1 SPTLC3 SPTLC2 SPTLC1 SH3TC2 LITAF CYP4F3
7 axonal neuropathy 10.3
8 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.2 SPTLC2 SPTLC1
9 neuropathy, hereditary sensory, type id 10.1 SPTLC2 SPTLC1
10 nephrotic syndrome, type 14 10.1 SPTLC2 SPTLC1
11 charcot-marie-tooth disease, axonal, type 2d 10.0 SPTLC1 SH3TC2
12 charcot-marie-tooth disease, type 4k 10.0 SH3TC2 LITAF
13 charcot-marie-tooth disease intermediate type 10.0 SH3TC2 LITAF
14 charcot-marie-tooth disease, demyelinating, type 4f 10.0 SH3TC2 LITAF
15 charcot-marie-tooth disease, dominant intermediate b 10.0 SH3TC2 LITAF
16 charcot-marie-tooth disease, type 4a 10.0 SH3TC2 LITAF
17 charcot-marie-tooth disease, type 4d 9.9 SH3TC2 LITAF
18 charcot-marie-tooth disease, demyelinating, type 1b 9.9 SH3TC2 LITAF
19 charcot-marie-tooth disease, type 4j 9.9 SH3TC2 LITAF
20 charcot-marie-tooth disease, type 4c 9.9 SH3TC2 LITAF
21 genetic motor neuron disease 9.9 SH3TC2 DCTN1
22 charcot-marie-tooth disease, demyelinating, type 1c 9.9 SPTLC2 SH3TC2 LITAF
23 tooth disease 9.9 SPTLC1 SH3TC2 LITAF
24 charcot-marie-tooth disease type x 9.9 SPTLC1 SH3TC2 LITAF
25 charcot-marie-tooth disease, x-linked dominant, 1 9.8 SPTLC1 SH3TC2 LITAF
26 charcot-marie-tooth disease, axonal, type 2b 9.8 SPTLC1 SH3TC2 LITAF
27 charcot-marie-tooth disease, demyelinating, type 1a 9.8 SPTLC1 SH3TC2 LITAF
28 neuronopathy, distal hereditary motor, type viib 9.8 SH3TC2 DCTN1
29 hypertrophic neuropathy of dejerine-sottas 9.8 SPTLC1 SH3TC2 LITAF
30 charcot-marie-tooth disease, type 4b1 9.8 SH3TC2 LITAF
31 neuronopathy, distal hereditary motor, type iic 9.8 SPTLC2 MYH14 LITAF
32 autosomal dominant distal hereditary motor neuronopathy 9.8 SH3TC2 DCTN1
33 neuropathy, hereditary, with liability to pressure palsies 9.8 SH3TC2 LITAF
34 neuropathy, hereditary sensory and autonomic, type ia 9.7 SPTLC3 SPTLC2 SPTLC1 SH3TC2
35 charcot-marie-tooth disease, type 4b2 9.7 SH3TC2 LITAF
36 motor peripheral neuropathy 9.6 SH3TC2 LITAF DCTN1
37 peripheral nervous system disease 9.6 SPTLC3 SPTLC1 SH3TC2 LITAF
38 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.4 SPTLC2 SH3TC2 LITAF DCTN1
39 neuromuscular disease 9.4 SPTLC1 SH3TC2 LITAF DCTN1
40 charcot-marie-tooth disease, axonal, type 2e 9.4 SPTLC1 SH3TC2 LITAF DCTN1
41 charcot-marie-tooth disease and deafness 9.2 SPTLC2 SPTLC1 SH3TC2 LITAF DCTN1
42 neuropathy, hereditary sensory and autonomic, type iia 9.2 SPTLC2 SPTLC1 SH3TC2 LITAF DCTN1
43 charcot-marie-tooth disease 8.9 SPTLC2 SPTLC1 SH3TC2 MYH14 LITAF DCTN1

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 skin ulcer 31 HP:0200042
2 osteomyelitis 31 HP:0002754
3 distal muscle weakness 31 HP:0002460
4 anhidrosis 31 HP:0000970
5 distal sensory impairment 31 HP:0002936
6 dysesthesia 31 HP:0012534
7 sensorimotor neuropathy 31 HP:0007141
8 distal sensory loss of all modalities 31 HP:0006984
9 abnormal foot morphology 31 HP:0001760
10 autoamputation 31 HP:0001218

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
tremor
increased muscle tone
pyramidal signs (in some patients)

Head And Neck Eyes:
scotoma
macular telangiectasia type 2 (in some patients)
impaired vision

Skeletal Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

Neurologic Peripheral Nervous System:
distal sensory loss of all modalities (pain, temperature, touch, vibration)
distal limb muscular weakness due to peripheral neuropathy
lower limbs more affected than upper limbs
axonal sensorimotor neuropathy
demyelinating neuropathy
more
Genitourinary External Genitalia Male:
erectile dysfunction

Skin Nails Hair Skin:
anhidrosis
ulcers, distal, painless, due to sensory neuropathy

Skeletal Feet:
autoamputation
foot deformities
osteomyelitis or necrosis, distal, due to sensory neuropathy

Clinical features from OMIM®:

613640 (Updated 20-May-2021)

UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:


dysesthesia

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 CYP4F3 DCTN1 LITAF MYH14 SH3TC2 SPTLC1

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type Ic 29 SPTLC2
2 Neuropathy, Hereditary Sensory, Type Ic 29

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

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

40
Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

(show all 13)
# Title Authors PMID Year
1
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. 6 57
31509666 2019
2
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. 57 6
30955194 2019
3
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 57 6
30866134 2019
4
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 6 57
26681808 2016
5
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. 6 57
25567748 2015
6
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. 6 57
23658386 2013
7
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 6 57
20920666 2010
8
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. 61 6
29042446 2017
9
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. 6 61
26573920 2016
10
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 57
30626650 2019
11
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India. 6
29184351 2017
12
The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations. 6
24175284 2013
13
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. 57
20097765 2010

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

6 (show top 50) (show all 300)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTLC2 NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) SNV Pathogenic 487224 rs775437084 GRCh37: 14:78043194-78043194
GRCh38: 14:77576851-77576851
2 SPTLC2 NM_004863.3(SPTLC2):c.1075G>A (p.Val359Met) SNV Pathogenic 4798 rs267607090 GRCh37: 14:78021744-78021744
GRCh38: 14:77555401-77555401
3 SPTLC2 NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) SNV Pathogenic 4797 rs267607089 GRCh37: 14:78021674-78021674
GRCh38: 14:77555331-77555331
4 SPTLC2 NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) SNV Pathogenic 208302 rs864621998 GRCh37: 14:78043197-78043197
GRCh38: 14:77576854-77576854
5 SPTLC2 NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) SNV Pathogenic 637418 rs1594986869 GRCh37: 14:78021668-78021668
GRCh38: 14:77555325-77555325
6 SPTLC2 NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) SNV Pathogenic 430350 rs1131691917 GRCh37: 14:78043212-78043212
GRCh38: 14:77576869-77576869
7 SPTLC2 NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) SNV Likely pathogenic 4797 rs267607089 GRCh37: 14:78021674-78021674
GRCh38: 14:77555331-77555331
8 SPTLC2 NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) SNV Uncertain significance 471491 rs765520235 GRCh37: 14:77984500-77984500
GRCh38: 14:77518157-77518157
9 SPTLC2 NM_004863.4(SPTLC2):c.1543G>A (p.Ala515Thr) SNV Uncertain significance 993751 GRCh37: 14:77984407-77984407
GRCh38: 14:77518064-77518064
10 SPTLC2 NM_004863.4(SPTLC2):c.*6169G>T SNV Uncertain significance 888004 GRCh37: 14:77972458-77972458
GRCh38: 14:77506115-77506115
11 SPTLC2 NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr) SNV Uncertain significance 950304 GRCh37: 14:77984439-77984439
GRCh38: 14:77518096-77518096
12 SPTLC2 NM_004863.3(SPTLC2):c.109G>T (p.Ala37Ser) SNV Uncertain significance 567958 rs1245435236 GRCh37: 14:78082814-78082814
GRCh38: 14:77616471-77616471
13 SPTLC2 NM_004863.3(SPTLC2):c.327+5C>G SNV Uncertain significance 569442 rs1385358452 GRCh37: 14:78063524-78063524
GRCh38: 14:77597181-77597181
14 SPTLC2 NM_004863.3(SPTLC2):c.1622G>A (p.Arg541His) SNV Uncertain significance 572090 rs375384785 GRCh37: 14:77978694-77978694
GRCh38: 14:77512351-77512351
15 SPTLC2 NM_004863.3(SPTLC2):c.1035G>A (p.Glu345=) SNV Uncertain significance 573032 rs1566778601 GRCh37: 14:78021784-78021784
GRCh38: 14:77555441-77555441
16 SPTLC2 NM_004863.3(SPTLC2):c.132+5G>T SNV Uncertain significance 575072 rs1442394746 GRCh37: 14:78082786-78082786
GRCh38: 14:77616443-77616443
17 SPTLC2 NM_004863.3(SPTLC2):c.263G>A (p.Arg88Gln) SNV Uncertain significance 575850 rs748168089 GRCh37: 14:78063593-78063593
GRCh38: 14:77597250-77597250
18 SPTLC2 NM_004863.4(SPTLC2):c.*3084A>G SNV Uncertain significance 885011 GRCh37: 14:77975543-77975543
GRCh38: 14:77509200-77509200
19 SPTLC2 NM_004863.4(SPTLC2):c.*2777G>A SNV Uncertain significance 885926 GRCh37: 14:77975850-77975850
GRCh38: 14:77509507-77509507
20 SPTLC2 NM_004863.4(SPTLC2):c.*2672A>G SNV Uncertain significance 885927 GRCh37: 14:77975955-77975955
GRCh38: 14:77509612-77509612
21 SPTLC2 NM_004863.4(SPTLC2):c.*946C>T SNV Uncertain significance 885994 GRCh37: 14:77977681-77977681
GRCh38: 14:77511338-77511338
22 SPTLC2 NM_004863.4(SPTLC2):c.*946C>A SNV Uncertain significance 885995 GRCh37: 14:77977681-77977681
GRCh38: 14:77511338-77511338
23 SPTLC2 NM_004863.4(SPTLC2):c.*4682C>A SNV Uncertain significance 886803 GRCh37: 14:77973945-77973945
GRCh38: 14:77507602-77507602
24 SPTLC2 NM_004863.3(SPTLC2):c.398A>G (p.Asn133Ser) SNV Uncertain significance 538846 rs1555376645 GRCh37: 14:78045382-78045382
GRCh38: 14:77579039-77579039
25 SPTLC2 NM_004863.3(SPTLC2):c.70G>C (p.Glu24Gln) SNV Uncertain significance 538847 rs1555379648 GRCh37: 14:78082853-78082853
GRCh38: 14:77616510-77616510
26 SPTLC2 NM_004863.3(SPTLC2):c.575C>T (p.Ala192Val) SNV Uncertain significance 538848 rs776071727 GRCh37: 14:78043166-78043166
GRCh38: 14:77576823-77576823
27 SPTLC2 NM_004863.3(SPTLC2):c.119_121CCG[5] (p.Ala41_Ala42dup) Microsatellite Uncertain significance 538849 rs1555379635 GRCh37: 14:78082795-78082796
GRCh38: 14:77616452-77616453
28 SPTLC2 NM_004863.3(SPTLC2):c.1032T>G (p.Asp344Glu) SNV Uncertain significance 538850 rs1555375334 GRCh37: 14:78021787-78021787
GRCh38: 14:77555444-77555444
29 SPTLC2 NM_004863.3(SPTLC2):c.44G>A (p.Arg15Gln) SNV Uncertain significance 538852 rs1164824967 GRCh37: 14:78082879-78082879
GRCh38: 14:77616536-77616536
30 SPTLC2 NM_004863.3(SPTLC2):c.415T>C (p.Cys139Arg) SNV Uncertain significance 538853 rs150036058 GRCh37: 14:78045365-78045365
GRCh38: 14:77579022-77579022
31 SPTLC2 NM_004863.4(SPTLC2):c.583G>A (p.Val195Ile) SNV Uncertain significance 998641 GRCh37: 14:78043158-78043158
GRCh38: 14:77576815-77576815
32 SPTLC2 NM_004863.4(SPTLC2):c.1060C>T (p.Pro354Ser) SNV Uncertain significance 1003505 GRCh37: 14:78021759-78021759
GRCh38: 14:77555416-77555416
33 SPTLC2 NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu) SNV Uncertain significance 1005402 GRCh37: 14:78082915-78082915
GRCh38: 14:77616572-77616572
34 SPTLC2 NM_004863.4(SPTLC2):c.467A>G (p.Tyr156Cys) SNV Uncertain significance 1009829 GRCh37: 14:78045313-78045313
GRCh38: 14:77578970-77578970
35 SPTLC2 NM_004863.4(SPTLC2):c.1447G>T (p.Gly483Ter) SNV Uncertain significance 1010136 GRCh37: 14:77984503-77984503
GRCh38: 14:77518160-77518160
36 SPTLC2 NM_004863.4(SPTLC2):c.1051G>T (p.Ala351Ser) SNV Uncertain significance 1011602 GRCh37: 14:78021768-78021768
GRCh38: 14:77555425-77555425
37 SPTLC2 NM_004863.4(SPTLC2):c.958A>G (p.Met320Val) SNV Uncertain significance 1011604 GRCh37: 14:78021861-78021861
GRCh38: 14:77555518-77555518
38 SPTLC2 NM_004863.4(SPTLC2):c.829A>G (p.Ile277Val) SNV Uncertain significance 1012079 GRCh37: 14:78028760-78028760
GRCh38: 14:77562417-77562417
39 SPTLC2 NM_004863.3(SPTLC2):c.460C>A (p.His154Asn) SNV Uncertain significance 471493 rs1205341271 GRCh37: 14:78045320-78045320
GRCh38: 14:77578977-77578977
40 SPTLC2 NM_004863.3(SPTLC2):c.406C>T (p.Arg136Trp) SNV Uncertain significance 538845 rs116730455 GRCh37: 14:78045374-78045374
GRCh38: 14:77579031-77579031
41 SPTLC2 NM_004863.3(SPTLC2):c.1628G>A (p.Arg543Gln) SNV Uncertain significance 440307 rs763898397 GRCh37: 14:77978688-77978688
GRCh38: 14:77512345-77512345
42 SPTLC2 NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln) SNV Uncertain significance 845498 GRCh37: 14:78023475-78023475
GRCh38: 14:77557132-77557132
43 SPTLC2 NM_004863.4(SPTLC2):c.756+6A>G SNV Uncertain significance 848921 GRCh37: 14:78036721-78036721
GRCh38: 14:77570378-77570378
44 SPTLC2 NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg) SNV Uncertain significance 850810 GRCh37: 14:78045325-78045325
GRCh38: 14:77578982-77578982
45 SPTLC2 NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del) Deletion Uncertain significance 854518 GRCh37: 14:78082796-78082807
GRCh38: 14:77616453-77616464
46 SPTLC2 NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu) SNV Uncertain significance 864607 GRCh37: 14:78063669-78063669
GRCh38: 14:77597326-77597326
47 SPTLC2 NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys) SNV Uncertain significance 939254 GRCh37: 14:78028811-78028811
GRCh38: 14:77562468-77562468
48 SPTLC2 NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly) SNV Uncertain significance 959658 GRCh37: 14:78043131-78043131
GRCh38: 14:77576788-77576788
49 SPTLC2 NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg) SNV Uncertain significance 962654 GRCh37: 14:78028747-78028747
GRCh38: 14:77562404-77562404
50 SPTLC2 NM_004863.4(SPTLC2):c.1403_1413del (p.Val468fs) Deletion Uncertain significance 1019974 GRCh37: 14:77987815-77987825
GRCh38: 14:77521472-77521482

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ic:

72
# Symbol AA change Variation ID SNP ID
1 SPTLC2 p.Val359Met VAR_064798 rs267607090
2 SPTLC2 p.Gly382Val VAR_064799 rs267607089
3 SPTLC2 p.Ile504Phe VAR_064800 rs267607091
4 SPTLC2 p.Ala182Pro VAR_069525 rs864621998
5 SPTLC2 p.Arg183Trp VAR_081286 rs775437084

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Ic.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 SPTLC3 SPTLC2 SPTLC1
2 10.87 SPTLC3 SPTLC2 SPTLC1

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 SPTLC3 SPTLC2 SPTLC1 CYP4F3
2 serine C-palmitoyltransferase complex GO:0017059 8.8 SPTLC3 SPTLC2 SPTLC1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.71 SPTLC3 SPTLC2 SPTLC1 CYP4F3
2 sphingolipid metabolic process GO:0006665 9.5 SPTLC3 SPTLC2 SPTLC1
3 sphingolipid biosynthetic process GO:0030148 9.43 SPTLC3 SPTLC2 SPTLC1
4 positive regulation of lipophagy GO:1904504 9.37 SPTLC2 SPTLC1
5 biosynthetic process GO:0009058 9.33 SPTLC3 SPTLC2 SPTLC1
6 ceramide biosynthetic process GO:0046513 9.13 SPTLC3 SPTLC2 SPTLC1
7 sphingosine biosynthetic process GO:0046512 8.8 SPTLC3 SPTLC2 SPTLC1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.43 SPTLC3 SPTLC2 SPTLC1
2 transferase activity, transferring acyl groups GO:0016746 9.33 SPTLC3 SPTLC2 SPTLC1
3 pyridoxal phosphate binding GO:0030170 9.13 SPTLC3 SPTLC2 SPTLC1
4 serine C-palmitoyltransferase activity GO:0004758 8.8 SPTLC3 SPTLC2 SPTLC1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Ic

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
Content
Loading form....