HSAN1A
MCID: NRP033
MIFTS: 43

Neuropathy, Hereditary Sensory and Autonomic, Type Ia (HSAN1A)

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 Ia

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

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Ia 57 13
Hsan1a 57 12 72
Neuropathy, Hereditary Sensory and Autonomic, Type 1a 29 6
Hereditary Sensory and Autonomic Neuropathy Type 1a 12 15
Hsan Ia 57 72
Hsn Ia 57 72
Hsan1 57 72
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a 57
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a 72
Neuropathy, Sensory and Autonomic, Hereditary, Type 1a 39
Hereditary Sensory and Autonomic Neuropathy Type Ia 12
Neuropathy, Hereditary Sensory and Autonomic, 1a 72
Hereditary Sensory Autonomic Neuropathy, Type 1 70
Neuropathy, Hereditary Sensory, Type Ia; Hsn1a 57
Neuropathy, Hereditary Sensory, Type Ia 57
Hereditary Sensory Neuropathy Type Ia 72
Hsn1a 57
Hsn1 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset usually in the second to fourth decades of life
some patients with childhood onset and a more severe phenotype have been reported


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070152
OMIM® 57 162400
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
UMLS 70 C0020071

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

OMIM® : 57 Hereditary sensory and autonomic neuropathy type IA (HSAN1A) 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. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by Rotthier et al., 2010 and Gantner et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019). (162400) (Updated 20-May-2021)

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Ia, also known as hsan1a, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory, type id. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ia is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include eye and skeletal muscle, and related phenotypes are sensorineural hearing impairment and skeletal muscle atrophy

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has material basis in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory and autonomic, 1A: 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. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations.

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

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 Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 31.6 SPTLC2 SPTLC1
2 neuropathy, hereditary sensory, type id 31.6 SPTLC2 SPTLC1
3 neuropathy, hereditary sensory, type ie 31.5 SPTLC2 SPTLC1
4 neuropathy, hereditary sensory and autonomic, type iii 31.1 SPTLC1 ELP1
5 neuropathy, hereditary sensory and autonomic, type ic 30.7 SPTLC3 SPTLC2 SPTLC1 SH3TC2
6 hereditary sensory and autonomic neuropathy type 1 30.6 SPTSSA SPTLC3 SPTLC2 SPTLC1 SH3TC2
7 autonomic neuropathy 29.8 WNK1 SPTLC2 SPTLC1 ELP1
8 sensory peripheral neuropathy 29.5 SPTLC3 SPTLC1
9 charcot-marie-tooth disease, demyelinating, type 1c 29.4 SPTLC2 SH3TC2
10 hereditary sensory neuropathy 29.0 WNK1 SPTSSA SPTLC3 SPTLC2 SPTLC1 ELP1
11 peripheral nervous system disease 28.8 SPTLC3 SPTLC1 SH3TC2 ELP1
12 neuropathy 28.3 WNK1 SPTLC3 SPTLC2 SPTLC1 SH3TC2 ELP1
13 sptlc1-related hereditary sensory neuropathy 11.1
14 indifference to pain, congenital, autosomal recessive 10.9
15 neuropathy, hereditary sensory and autonomic, type iib 10.9
16 neuropathy, hereditary sensory, type iic 10.9
17 neuropathy, hereditary sensory and autonomic, type vi 10.9
18 neuropathy, hereditary sensory, type if 10.9
19 neuropathy, hereditary sensory and autonomic, type viii 10.9
20 avian influenza 9.9
21 charcot-marie-tooth disease type x 9.9 SPTLC1 SH3TC2
22 charcot-marie-tooth disease, x-linked dominant, 1 9.9 SPTLC1 SH3TC2
23 alzheimer disease 9.9
24 erythermalgia, primary 9.9
25 ataxia and polyneuropathy, adult-onset 9.9
26 frontotemporal dementia 9.9
27 branchiootic syndrome 1 9.9
28 alzheimer disease 9 9.9
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
30 hereditary ataxia 9.9
31 dementia 9.9
32 narcolepsy 9.9
33 charcot-marie-tooth disease, axonal, type 2d 9.9 SPTLC1 SH3TC2
34 charcot-marie-tooth disease, axonal, type 2b 9.8 SPTLC1 SH3TC2
35 charcot-marie-tooth disease, demyelinating, type 1a 9.8 SPTLC1 SH3TC2
36 neuropathy, hereditary sensory and autonomic, type v 9.8 WNK1 SPTLC1 ELP1
37 charcot-marie-tooth disease and deafness 9.7 SPTLC2 SPTLC1 SH3TC2
38 hypertrophic neuropathy of dejerine-sottas 9.7 SPTLC1 SH3TC2
39 nephrotic syndrome, type 14 9.7 SPTSSA SPTLC2 SPTLC1 B4GALNT1
40 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 SPTLC2 SH3TC2 ELP1
41 neuropathy, hereditary sensory and autonomic, type iia 9.2 WNK1 SPTLC2 SPTLC1 SH3TC2 ELP1
42 charcot-marie-tooth disease 9.2 WNK1 SPTLC2 SPTLC1 SH3TC2 ELP1

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



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

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 skeletal muscle atrophy 31 HP:0003202
3 areflexia 31 HP:0001284
4 pes cavus 31 HP:0001761
5 hyporeflexia 31 HP:0001265
6 abnormality of the skin 31 HP:0000951
7 distal muscle weakness 31 HP:0002460
8 distal sensory impairment 31 HP:0002936
9 distal sensory loss of all modalities 31 HP:0006984
10 foot osteomyelitis 31 HP:0001886
11 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
12 decreased sensory nerve conduction velocity 31 HP:0003448
13 chronic axonal neuropathy 31 HP:0007267
14 autoamputation of foot 31 HP:0001868

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

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

Head And Neck Eyes:
macular telangiectasia type 2 (in some patients)
cataracts (in some patients)

Neurologic Peripheral Nervous System:
distal sensory loss of all modalities (pain, temperature, touch, vibration)
taste is spared
sharp, 'lightning'-like pain
distal limb muscular atrophy due to peripheral neuropathy
distal limb muscular weakness due to peripheral neuropathy
more
Skeletal:
osteomyelitis

Head And Neck Ears:
deafness, sensorineural (reported in 1 family)

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

Clinical features from OMIM®:

162400 (Updated 20-May-2021)

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

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

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

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

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory and Autonomic, Type 1a 29 SPTLC1

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

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

40
Eye, Skeletal Muscle

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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

(show all 45)
# Title Authors PMID Year
1
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. 57 6
31509666 2019
2
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 57 6
26681808 2016
3
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. 57 6
23454272 2013
4
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. 57 6
20504773 2010
5
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. 57 6
20097765 2010
6
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 6 57
19651702 2009
7
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. 6 57
19132419 2009
8
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. 6 57
11479835 2001
9
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. 57 6
11242106 2001
10
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 57 6
11242114 2001
11
SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. 57 6
14152213 1964
12
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. 57
30626650 2019
13
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
14
Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1. 6
25584079 2015
15
Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts. 6
24673574 2014
16
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 6
24247255 2014
17
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 6
22302274 2012
18
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. 6
21618344 2011
19
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 57
20920666 2010
20
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. 6
19923297 2009
21
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 57
18077166 2008
22
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. 6
18018475 2007
23
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 6
16364956 2006
24
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. 6
16210380 2005
25
Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies. 6
15546589 2004
26
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. 57
15037712 2004
27
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. 6
12417569 2002
28
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. 57
11003785 2000
29
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. 57
9722951 1998
30
Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA. 57
9371409 1997
31
The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. 57
8673084 1996
32
Is there involvement of the central nervous system in hereditary sensory radicular neuropathy? 57
1321699 1992
33
Hereditary sensory neuropathy: biopsy study of an autosomal dominant variety. 57
3860748 1985
34
"Burning feet" as the only manifestation of dominantly inherited sensory neuropathy. 57
6575233 1983
35
Hereditary sensory neuropathy and tonic pupils. 57
183169 1976
36
A VIRGINIA KINSHIP WITH HEREDITARY SENSORY NEUROPATHY: PERONEAL MUSCULAR ATROPHY AND PES CAVUS. 57
14341177 1965
37
Hereditary sensory radicular neuropathy. 57
14420561 1960
38
Hereditary insensitivity to pain. 57
13890708 1960
39
Congenital insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions. 57
13634374 1959
40
[Acropathia ulcero-mutilans, Charcot-Marie type of amyotrophic frusta & alexia in a pair of monozygotic twins]. 57
13646503 1958
41
Hereditary sensory radicular neuropathy. 57
14898294 1951
42
Remarks ON SYRINGOMYELIA (SACRO-LUMBAR TYPE), OCCURRING IN A BROTHER AND SISTER. 57
20764666 1909
43
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. 61
33714697 2021
44
Structure and conserved function of iso-branched sphingoid bases from the nematode Caenorhabditis elegans. 61
30155209 2017
45
Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies. 61
26232991 2015

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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

6 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTLC1 NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) SNV Pathogenic 4805 rs267607088 GRCh37: 9:94809480-94809480
GRCh38: 9:92047198-92047198
2 SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 GRCh37: 9:94842326-94842326
GRCh38: 9:92080044-92080044
3 SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 GRCh37: 9:94842327-94842327
GRCh38: 9:92080045-92080045
4 SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic 4801 rs119482083 GRCh37: 9:94830377-94830377
GRCh38: 9:92068095-92068095
5 SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 GRCh37: 9:94809543-94809543
GRCh38: 9:92047261-92047261
6 SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 GRCh37: 9:94842326-94842326
GRCh38: 9:92080044-92080044
7 SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 GRCh37: 9:94842327-94842327
GRCh38: 9:92080045-92080045
8 SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Likely pathogenic 4801 rs119482083 GRCh37: 9:94830377-94830377
GRCh38: 9:92068095-92068095
9 SPTLC1 NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) SNV Likely pathogenic 450572 rs1554716504 GRCh37: 9:94874834-94874834
GRCh38: 9:92112552-92112552
10 SPTLC1 NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) SNV Likely pathogenic 209194 rs797045071 GRCh37: 9:94809463-94809463
GRCh38: 9:92047181-92047181
11 SPTLC1 NM_006415.4(SPTLC1):c.112_114CTT[1] (p.Leu39del) Microsatellite Likely pathogenic 802489 rs1197928094 GRCh37: 9:94874785-94874787
GRCh38: 9:92112503-92112505
12 SPTLC1 NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr) SNV Uncertain significance 811408 rs765166668 GRCh37: 9:94809905-94809905
GRCh38: 9:92047623-92047623
13 SPTLC1 NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) SNV Uncertain significance 426856 rs779810169 GRCh37: 9:94830336-94830336
GRCh38: 9:92068054-92068054
14 SPTLC1 NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) SNV Uncertain significance 526709 rs567541925 GRCh37: 9:94800570-94800570
GRCh38: 9:92038288-92038288
15 SPTLC1 NM_006415.4(SPTLC1):c.58-9C>T SNV Uncertain significance 367552 rs769188151 GRCh37: 9:94874853-94874853
GRCh38: 9:92112571-92112571
16 SPTLC1 NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly) SNV Uncertain significance 915064 GRCh37: 9:94800558-94800558
GRCh38: 9:92038276-92038276
17 SPTLC1 NM_006415.4(SPTLC1):c.*1307C>T SNV Uncertain significance 915016 GRCh37: 9:94793440-94793440
GRCh38: 9:92031158-92031158
18 SPTLC1 NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile) SNV Uncertain significance 913466 GRCh37: 9:94877628-94877628
GRCh38: 9:92115346-92115346
19 SPTLC1 NM_006415.4(SPTLC1):c.442T>C (p.Leu148=) SNV Uncertain significance 913465 GRCh37: 9:94830366-94830366
GRCh38: 9:92068084-92068084
20 SPTLC1 NM_006415.4(SPTLC1):c.*451G>T SNV Uncertain significance 913421 GRCh37: 9:94794296-94794296
GRCh38: 9:92032014-92032014
21 SPTLC1 NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser) SNV Uncertain significance 456600 rs1554706429 GRCh37: 9:94809520-94809520
GRCh38: 9:92047238-92047238
22 SPTLC1 NM_006415.4(SPTLC1):c.1329-9T>C SNV Uncertain significance 380134 rs778388513 GRCh37: 9:94794849-94794849
GRCh38: 9:92032567-92032567
23 SPTLC1 NM_006415.4(SPTLC1):c.*797T>G SNV Uncertain significance 913059 GRCh37: 9:94793950-94793950
GRCh38: 9:92031668-92031668
24 SPTLC1 NM_006415.4(SPTLC1):c.*200G>T SNV Uncertain significance 367539 rs1057515689 GRCh37: 9:94794547-94794547
GRCh38: 9:92032265-92032265
25 SPTLC1 NM_006415.4(SPTLC1):c.*1093G>A SNV Uncertain significance 367530 rs1057515685 GRCh37: 9:94793654-94793654
GRCh38: 9:92031372-92031372
26 SPTLC1 NM_006415.4(SPTLC1):c.*631G>C SNV Uncertain significance 367533 rs1057515686 GRCh37: 9:94794116-94794116
GRCh38: 9:92031834-92031834
27 SPTLC1 NM_006415.4(SPTLC1):c.-27C>T SNV Uncertain significance 367553 rs558203491 GRCh37: 9:94877679-94877679
GRCh38: 9:92115397-92115397
28 SPTLC1 NM_006415.4(SPTLC1):c.*503C>T SNV Uncertain significance 367535 rs994723205 GRCh37: 9:94794244-94794244
GRCh38: 9:92031962-92031962
29 SPTLC1 NM_006415.4(SPTLC1):c.919A>G (p.Met307Val) SNV Uncertain significance 456606 rs1554706531 GRCh37: 9:94809960-94809960
GRCh38: 9:92047678-92047678
30 SPTLC1 NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp) SNV Uncertain significance 456602 rs1298409243 GRCh37: 9:94800625-94800625
GRCh38: 9:92038343-92038343
31 SPTLC1 NM_006415.4(SPTLC1):c.51T>G (p.Leu17=) SNV Uncertain significance 456603 rs1400591449 GRCh37: 9:94877602-94877602
GRCh38: 9:92115320-92115320
32 SPTLC1 NM_006415.4(SPTLC1):c.745A>G (p.Met249Val) SNV Uncertain significance 526708 rs1279567220 GRCh37: 9:94817722-94817722
GRCh38: 9:92055440-92055440
33 SPTLC1 NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val) SNV Uncertain significance 566564 rs749175480 GRCh37: 9:94821535-94821535
GRCh38: 9:92059253-92059253
34 SPTLC1 NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly) SNV Uncertain significance 566591 rs763065459 GRCh37: 9:94809969-94809969
GRCh38: 9:92047687-92047687
35 SPTLC1 NM_006415.4(SPTLC1):c.428-1G>C SNV Uncertain significance 567474 rs776829771 GRCh37: 9:94830381-94830381
GRCh38: 9:92068099-92068099
36 SPTLC1 NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr) SNV Uncertain significance 567643 rs766476735 GRCh37: 9:94809971-94809971
GRCh38: 9:92047689-92047689
37 SPTLC1 NM_006415.4(SPTLC1):c.608G>A (p.Arg203His) SNV Uncertain significance 568972 rs778759719 GRCh37: 9:94821543-94821543
GRCh38: 9:92059261-92059261
38 SPTLC1 NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 573770 rs990974255 GRCh37: 9:94809481-94809481
GRCh38: 9:92047199-92047199
39 SPTLC1 NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser) SNV Uncertain significance 576941 rs527406013 GRCh37: 9:94830351-94830351
GRCh38: 9:92068069-92068069
40 SPTLC1 NM_006415.4(SPTLC1):c.1150A>G (p.Lys384Glu) SNV Uncertain significance 862388 GRCh37: 9:94800634-94800634
GRCh38: 9:92038352-92038352
41 SPTLC1 NM_006415.4(SPTLC1):c.1066A>G (p.Met356Val) SNV Uncertain significance 966018 GRCh37: 9:94809469-94809469
GRCh38: 9:92047187-92047187
42 SPTLC1 NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) SNV Uncertain significance 526709 rs567541925 GRCh37: 9:94800570-94800570
GRCh38: 9:92038288-92038288
43 SPTLC1 NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 573814 rs143232538 GRCh37: 9:94843196-94843196
GRCh38: 9:92080914-92080914
44 SPTLC1 NM_006415.4(SPTLC1):c.71A>G (p.His24Arg) SNV Uncertain significance 660001 rs1587626442 GRCh37: 9:94874831-94874831
GRCh38: 9:92112549-92112549
45 SPTLC1 NM_006415.4(SPTLC1):c.451C>T (p.Arg151Cys) SNV Uncertain significance 841024 GRCh37: 9:94830357-94830357
GRCh38: 9:92068075-92068075
46 SPTLC1 NM_006415.4(SPTLC1):c.706C>T (p.Arg236Cys) SNV Uncertain significance 842243 GRCh37: 9:94817761-94817761
GRCh38: 9:92055479-92055479
47 SPTLC1 NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter) SNV Uncertain significance 854822 GRCh37: 9:94821496-94821496
GRCh38: 9:92059214-92059214
48 SPTLC1 NM_006415.4(SPTLC1):c.806C>G (p.Ala269Gly) SNV Uncertain significance 854944 GRCh37: 9:94812324-94812324
GRCh38: 9:92050042-92050042
49 SPTLC1 NM_006415.4(SPTLC1):c.378G>C (p.Lys126Asn) SNV Uncertain significance 863264 GRCh37: 9:94842347-94842347
GRCh38: 9:92080065-92080065
50 SPTLC1 NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) SNV Uncertain significance 864757 GRCh37: 9:94812271-94812271
GRCh38: 9:92049989-92049989

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

72
# Symbol AA change Variation ID SNP ID
1 SPTLC1 p.Cys133Trp VAR_011392 rs119482082
2 SPTLC1 p.Cys133Tyr VAR_011393 rs119482081
3 SPTLC1 p.Val144Asp VAR_011394 rs119482083
4 SPTLC1 p.Ser331Phe VAR_066245 rs267607087
5 SPTLC1 p.Ala352Val VAR_066246 rs267607088

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 SPTSSA SPTLC3 SPTLC2 SPTLC1 B4GALNT1
2 11.21 SPTLC3 SPTLC2 SPTLC1

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

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 SPTSSA SPTLC3 SPTLC2 SPTLC1
2 serine C-palmitoyltransferase complex GO:0017059 8.92 SPTSSA SPTLC3 SPTLC2 SPTLC1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.73 SPTSSA SPTLC3 SPTLC2 SPTLC1 ENPP6 B4GALNT1
2 biosynthetic process GO:0009058 9.54 SPTLC3 SPTLC2 SPTLC1
3 sphingosine biosynthetic process GO:0046512 9.5 SPTLC3 SPTLC2 SPTLC1
4 sphingolipid biosynthetic process GO:0030148 9.46 SPTSSA SPTLC3 SPTLC2 SPTLC1
5 positive regulation of lipophagy GO:1904504 9.4 SPTLC2 SPTLC1
6 ceramide biosynthetic process GO:0046513 9.26 SPTSSA SPTLC3 SPTLC2 SPTLC1
7 sphingolipid metabolic process GO:0006665 9.02 SPTSSA SPTLC3 SPTLC2 SPTLC1 B4GALNT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.72 WNK1 SPTLC3 SPTLC2 SPTLC1 B4GALNT1
2 catalytic activity GO:0003824 9.46 SPTLC3 SPTLC2 SPTLC1 ENPP6
3 transferase activity, transferring acyl groups GO:0016746 9.43 SPTLC3 SPTLC2 SPTLC1
4 pyridoxal phosphate binding GO:0030170 9.13 SPTLC3 SPTLC2 SPTLC1
5 serine C-palmitoyltransferase activity GO:0004758 8.92 SPTSSA SPTLC3 SPTLC2 SPTLC1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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....