Page last updated: 2024-09-28

Sphingolipid Storage Diseases

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.

Synonyms(3)

Synonym
Sphingolipidosis
Sphingolipidoses
Sphingolipid Storage Diseases

Research Excerpts

Overview

ExcerptReference
"Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine."( Ait Sab, I; Assiri, I; Bennaoui, F; Bourous, M; Bourrahouat, A; Bouskraoui, M; Elamiri, M; Elqadiry, R; Essaadouni, L; Fdil, N; Hammoud, M; Houël, E; Imad, N; Jakani, M; Lafhal, K; Maoulainine, F; Mrhar, S; Najeh, S; Nassih, H; Outzourit, A; Rada, N; Rodrigues, AMS; Sabir, E; Slitine Elidrissi, N; Stien, D, 2023)

Research

Studies (103)

TimeframeStudies, This Condition (%)All Conditions %
pre-199053 (51.46)23.3326
1990's17 (16.50)12.5806
2000's23 (22.33)18.1394
2010's8 (7.77)28.8240
2020's2 (1.94)9.53
DrugIndicatedRelationship StrengthStudiesTrials
cysteine sulfinic acid0low10
ammonium hydroxide0low10
benzene0low10
glycine0low50
phosphorylcholine0low10
urea0low10
1-anilino-8-naphthalenesulfonate0low10
prednisolone0low10
dehydroepiandrosterone0low10
alanine0low30
aspartic acid0low10
lysine0low10
uridine diphosphate0low10
galactose0low60
lactose0low10
phenylalanine0low10
methylamine0low10
taurocholic acid0low20
uridine diphosphate glucose0low10
fucose0low20
sabinene0low10
mannose0low10
galactosamine0low30
galactose0low40
4-chloro-7-nitrobenzofurazan0low10
trolamine salicylate0low10
1-deoxynojirimycin0low10
propiconazole0low10
fomesafen0low10
miglustat0low10
glucose, (beta-d)-isomer0low10
cholesteryl sulfate0low10
n-formylglycine0low10
arimoclomol0low10
n-acetylneuraminic acid0low10
mannose-6-phosphate0low10
glucosamine0low20
inositol 1,4,5-trisphosphate0low10
strychnine0low10
c(alpha)-formylglycine0low30
glycosides0low10
D-fructopyranose0low10
dermatan sulfate0low10
cystine0low10
sphingosine0low100
bilirubin0low10
psychosine0low20
sphingosine 1-phosphate0low20
cysteine0low10
sphingosine phosphorylcholine0low10
cdw17 antigen0low40
i(3)so3-galactosylceramide0low80
2-hydroxy-9-cis-octadecenoic acid0low10
g(m2) ganglioside0low50
g(m1) ganglioside0low40
acid phosphatase0low50
oligonucleotides0low10
phosphatidylcholines0low10
4,4-difluoro-4-bora-3a,4a-diaza-s-indacene0low50
glycolipids0low260
galactocerebroside0low10
heparitin sulfate0low30
warfarin0low10
globotriaosylceramide0low20
g(m3) ganglioside0low20
vitamin b 120low10
eye0low10
concanavalin a0low10

Protein Targets (457)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain B, pheromone binding protein0011
Chain A, pheromone binding protein0011
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Chain A, RNA-directed RNA polymerase NS50101
acid sphingomyelinase2002
thioredoxin reductase3003
USP1 protein, partial5005
TDP1 protein5005
vitamin D3 receptor isoform VDRA4004
importin subunit beta-1 isoform 12002
flap endonuclease 12002
serine/threonine-protein kinase PLK11001
snurportin-12002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase eta isoform 12002
DNA polymerase iota isoform a (long)4004
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin4004
DNA polymerase kappa isoform 14004
fibroblast growth factor 22 isoform 1 precursor0001
Mitogen-activated protein kinase 130101
Beta-lactamase0101
Transthyretin0011
Fatty acid-binding protein, intestinal0112
Fatty acid-binding protein, adipocyte0112
Cyclin-A20101
Cannabinoid receptor 10011
Cyclin-dependent kinase 20112
Choline O-acetyltransferase0101
Mitogen-activated protein kinase 120101
Guanine nucleotide-binding protein G2002
Fatty acid-binding protein 50011
Fatty acid-binding protein 50011
Mitogen-activated protein kinase 110101
Mitogen-activated protein kinase 140101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
glucocerebrosidase2002
Alpha-mannosidase0101
alpha-galactosidase2002
Trehalase 0202
lysosomal alpha-glucosidase preproprotein1001
Trehalase0101
Maltase-glucoamylase, intestinal0202
Trehalase 0202
Lysosomal acid glucosylceramidase0404
Alpha-galactosidase A0101
Alpha-glucosidase MAL620101
Lactase-phlorizin hydrolase0202
Lysosomal alpha-glucosidase0404
Beta-glucosidase A0101
Sucrase-isomaltase, intestinal0202
Alpha-1B adrenergic receptor0101
Sucrase-isomaltase, intestinal0202
Alpha-1D adrenergic receptor0101
Beta-glucosidase0101
Protein-lysine 6-oxidase0404
Alpha-mannosidase 20202
Glycogen debranching enzyme0202
Glycogen debranching enzyme0101
Alpha-glucosidase MAL320101
Alpha-1A adrenergic receptor0101
Oligo-1,6-glucosidase IMA10101
Alpha-glucosidase MAL120202
Oxysterols receptor LXR-beta0101
Spike glycoprotein3003
Alpha-amylase 0101
Trehalose synthase/amylase TreS0101
Lactase-phlorizin hydrolase 0202
Oxysterols receptor LXR-alpha0101
Neutral alpha-glucosidase AB0202
Ceramide glucosyltransferase0202
Lysosomal acid glucosylceramidase0101
Probable maltase-glucoamylase 20101
Beta-glucosidase 0101
Lysosomal alpha-glucosidase0202
Cytosolic beta-glucosidase0101
Non-lysosomal glucosylceramidase0202
Putative alpha-glucosidase0202
NPYLR7B0011
Replicase polyprotein 1ab0101
Chain A, TYROSYL-DNA PHOSPHODIESTERASE4004
Carbonic anhydrase 10004
Carbonic anhydrase 20004
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0002
Glutamate receptor ionotropic, NMDA 1 0416
Proton-coupled amino acid transporter 10405
Adenosine deaminase0001
Carbonic anhydrase 40002
Chain A, Hyaluronidase, phage associated0101
acetylcholinesterase1001
RAR-related orphan receptor gamma8008
GLI family zinc finger 37007
AR protein6006
thioredoxin glutathione reductase1001
cytochrome P450 family 3 subfamily A polypeptide 44004
glucocorticoid receptor [Homo sapiens]7007
retinoic acid nuclear receptor alpha variant 16006
estrogen-related nuclear receptor alpha7007
estrogen nuclear receptor alpha8008
vitamin D (1,25- dihydroxyvitamin D3) receptor4004
IDH13003
euchromatic histone-lysine N-methyltransferase 24004
chromobox protein homolog 17007
nuclear factor erythroid 2-related factor 2 isoform 22002
thyroid hormone receptor beta isoform 24004
nuclear factor erythroid 2-related factor 2 isoform 16006
lethal(3)malignant brain tumor-like protein 1 isoform I1001
lethal factor (plasmid)3003
lamin isoform A-delta105005
Polyphenol oxidase 20101
Pancreatic alpha-amylase0202
Albumin0101
Urease0101
Prolyl 4-hydroxylase subunit alpha-10001
Tyrosinase0101
Alpha-2B adrenergic receptor0011
Hyaluronate lyase0101
Prolyl hydroxylase EGLN20001
Egl nine homolog 10001
Prolyl hydroxylase EGLN30001
Hypoxia-inducible factor 1-alpha inhibitor0001
Solute carrier family 23 member 10101
Chain A, Ferritin light chain3003
phosphopantetheinyl transferase4004
aldehyde dehydrogenase 1 family, member A15005
arylsulfatase A3003
Bloom syndrome protein isoform 14004
cytochrome P450 2C19 precursor1001
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0315
Glutamate receptor ionotropic, NMDA 2B0315
Glutamate receptor ionotropic, NMDA 2C0315
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0003
Glutamate receptor ionotropic, NMDA 2D0315
Glutamate receptor ionotropic, NMDA 3B0315
Glutamate receptor ionotropic, NMDA 3A0315
Chain A, Integrase0101
Chain A, Integrase0101
Chain A, T4 LYSOZYME0011
Chain A, GCN4P10011
Chain B, GCN4P10011
Chain C, GCN4P10011
Chain A, T4 LYSOZYME0011
Chain A, T4 LYSOZYME0011
Chain A, Replicase polyprotein 1ab0101
Chain A, 3C-like proteinase0101
pregnane X receptor2002
thyroid stimulating hormone receptor1001
progesterone receptor6006
retinoid X nuclear receptor alpha5005
peroxisome proliferator-activated receptor delta4004
cellular tumor antigen p53 isoform a1001
Endolysin0011
Cellular tumor antigen p534004
Integrin beta-31001
Integrin alpha-IIb1001
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, Cruzipain2002
Microtubule-associated protein tau2002
caspase-1 isoform alpha precursor1001
Caspase-71001
Inositol monophosphatase 11001
Solute carrier organic anion transporter family member 1B30204
Solute carrier organic anion transporter family member 1B10204
Cholesterol 24-hydroxylase0011
Smad31001
apical membrane antigen 1, AMA12002
Rap guanine nucleotide exchange factor 41001
hypoxia-inducible factor 1 alpha subunit3003
SMAD family member 22002
SMAD family member 32002
estrogen receptor 2 (ER beta)2002
farnesoid X nuclear receptor2002
pregnane X nuclear receptor7007
cytochrome P450 2D61001
peroxisome proliferator activated receptor gamma4004
aryl hydrocarbon receptor3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
thyroid stimulating hormone receptor1001
heat shock protein beta-11001
Sex hormone-binding globulin0011
Beta-glucuronidase0101
Corticosteroid-binding globulin0202
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
Alpha-synuclein1001
TAR DNA-binding protein 432002
G-protein coupled bile acid receptor 10022
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Luciferase3003
Histone H2A.x2002
Fucose-binding lectin PA-IIL0202
CD209 antigen0303
P-selectin0101
histone acetyltransferase KAT2A isoform 11001
Beta-galactosidase0101
Lipopolysaccharide heptosyltransferase 10101
PA-I galactophilic lectin0011
Jacalin0011
Glycogen phosphorylase, muscle form0101
Asialoglycoprotein receptor 10112
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial1001
GLS protein1001
peripheral myelin protein 22 isoform 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Neutral amino acid transporter A0202
Asc-type amino acid transporter 10202
Neutral amino acid transporter B(0)0202
Amino acid transporter0202
ATP-dependent phosphofructokinase2002
Glycine receptor subunit alpha-10213
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Large neutral amino acids transporter small subunit 10304
Serine racemase0101
Olfactory receptor 51E20022
Sodium- and chloride-dependent glycine transporter 20101
Chain A, BETA-SPECTRIN0011
Chain A, Phospholipase C Delta-10011
Chain A, Inositol 1,4,5-trisphosphate receptor type 10011
Inositol-trisphosphate 3-kinase A0101
Inositol 1,4,5-trisphosphate receptor type 1 0022
Inositol 1,4,5-trisphosphate receptor type 20101
Inositol 1,4,5-trisphosphate receptor type 30112
Inositol polyphosphate-5-phosphatase A0101
Inositol 1,4,5-trisphosphate receptor type 10112
Chain A, Lectin0011
Chain A, Lectin0011
Chain A, Lectin0011
Chain A, Lectin0011
Chain A, ERYTHRINA CRISTA-GALLI LECTIN0011
Chain A, ERYTHRINA CRISTA-GALLI LECTIN0011
Chain A, cellulase0011
Chain A, cellulase0011
Chain A, Galectin-30011
Chain A, Anti-tumor lectin0101
Galectin-30101
Galectin-90011
Galectin-80011
Beta-galactoside-binding lectin0101
Galectin-10113
Galectin-30112
Galectin-30113
Galectin-70011
Alpha 1,4 galactosyltransferase0001
Chain A, AMINOPEPTIDASE0202
Chain A, AMINOPEPTIDASE0202
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0202
Intestinal-type alkaline phosphatase0202
Phospholipase A-2-activating protein0202
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
potassium voltage-gated channel subfamily H member 2 isoform d3003
Glutathione reductase, mitochondrial0202
Cationic amino acid transporter 30101
transcriptional regulator ERG isoform 31001
Alpha-mannosidase 2C10101
Gag-Pol polyprotein0101
Sucrase-isomaltase 0101
Ceramide glucosyltransferase0101
Cytochrome P450 3A40202
Beta-galactosidase0101
Lysosomal alpha-glucosidase0101
Non-lysosomal glucosylceramidase0101
Sialidase-40101
Sialidase-10101
Sialidase-30101
Sialidase-20101
thyroid hormone receptor beta isoform a4004
peripheral myelin protein 221001
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Carbonic anhydrase 120001
Plasma kallikrein0001
Carbonic anhydrase 30001
Alkaline phosphatase, tissue-nonspecific isozyme 0101
Intestinal-type alkaline phosphatase0101
5'-nucleotidase0101
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Carbonic anhydrase0001
E3 ubiquitin-protein ligase XIAP0101
SLC16A10 protein0001
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Large neutral amino acids transporter small subunit 1 0101
Carbonic anhydrase 0001
Carbonic anhydrase 130001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
luciferase0001
v-jun sarcoma virus 17 oncogene homolog (avian)2002
nuclear receptor subfamily 1, group I, member 21001
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40303
Voltage-dependent calcium channel gamma-2 subunit2002
Bile salt export pump0304
Interferon beta2002
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor0218
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10303
Mineralocorticoid receptor 0213
Androgen receptor0202
Cytochrome P450 2C9 0202
Glutamine synthetase0011
Androgen receptor0101
Glutamate receptor 22002
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Histamine H1 receptor0011
Prostaglandin G/H synthase 20101
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
Canalicular multispecific organic anion transporter 10202
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Chain A, Beta-lactamase2002
glp-1 receptor, partial1001
nuclear receptor subfamily 1, group I, member 32002
nonstructural protein 11001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
heat shock protein HSP 90-alpha isoform 20001
nuclear receptor ROR-gamma isoform 11001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Histamine H2 receptor1001
heat shock protein 90, putative0001
endonuclease IV2002
ATAD5 protein, partial1001
C-X-C chemokine receptor type 5 isoform 10101
DNA polymerase beta1001
mitogen-activated protein kinase 11001
ubiquitin-conjugating enzyme E2 N0101
C-C chemokine receptor type 60101
apelin receptor0101
bcl-2-related protein A10101
streptokinase A precursor0011
Endoglycoceramidase II 0001
Protein kinase C alpha type0101
Estrogen receptor0011
Protein kinase C delta type0101
Protein kinase C epsilon type0101
Protein kinase C zeta type0101
cAMP-dependent protein kinase catalytic subunit alpha 0101
Protein kinase C gamma type0101
Protein kinase C beta type0101
Estrogen receptor beta0011
Protein kinase C eta type0101
Sphingosine kinase 20101
Sphingosine kinase 10101
Protein kinase C theta type0101
Sphingosine 1-phosphate receptor 20112
Sphingosine 1-phosphate receptor 40112
Sphingosine 1-phosphate receptor 10112
Sodium-dependent serotonin transporter0112
Sphingosine 1-phosphate receptor 30112
Sphingosine 1-phosphate receptor 50112
Gamma-aminobutyric acid receptor subunit rho-30001
Gamma-aminobutyric acid receptor subunit rho-10001
Gamma-aminobutyric acid receptor subunit rho-20001
Glycine receptor subunit beta0101
Taste receptor type 2 member 460011
Taste receptor type 2 member 100012
Sodium/bile acid cotransporter0001
Solute carrier organic anion transporter family member 1A40203
Solute carrier family 22 member 60101
Bile salt export pump0001
Solute carrier organic anion transporter family member 1A50001
ATP-binding cassette sub-family C member 30001
Solute carrier organic anion transporter family member 2B1 0001
Sodium-dependent dopamine transporter0101
Sodium/bile acid cotransporter0102
Solute carrier organic anion transporter family member 1A10102
Solute carrier organic anion transporter family member 1A20001
Ileal sodium/bile acid cotransporter0001
Solute carrier organic anion transporter family member 1A30102
Ileal sodium/bile acid cotransporter0102
Sodium/bile acid cotransporter0102
Ileal sodium/bile acid cotransporter0001
Solute carrier organic anion transporter family member0001
Solute carrier organic anion transporter family member 4A10001
Multidrug resistance associated protein0102
Solute carrier organic anion transporter family member 1C10101
Solute carrier organic anion transporter family member 2B10001
Solute carrier organic anion transporter family member 1A10001
Bile salt export pump0001
Solute carrier organic anion transporter family member 1B20001
Solute carrier family 22 member 80101
caspase 7, apoptosis-related cysteine protease1001
caspase-31001
Rap guanine nucleotide exchange factor 31001
Urease subunit alpha0101
Urease subunit beta0101
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit0101
Seminal ribonuclease0101
Ribonucleoside-diphosphate reductase large subunit0001
Ribonucleoside-diphosphate reductase subunit M20001
P2Y purinoceptor 20022
P2Y purinoceptor 10011
P2Y purinoceptor 40011
Ribonuclease pancreatic0101
UDP-galactopyranose mutase0011
P2Y purinoceptor 60022
P2Y purinoceptor 140022
UDP-galactopyranose mutase0011
P2Y purinoceptor 60011
Ribonucleoside-diphosphate reductase subunit M2 B0001
D(1A) dopamine receptor1001
Gamma-aminobutyric acid type B receptor subunit 20101
4-aminobutyrate aminotransferase, mitochondrial0101
4-aminobutyrate aminotransferase, mitochondrial0101
4-aminobutyrate aminotransferase, mitochondrial0101
Gamma-aminobutyric acid type B receptor subunit 10101
PPM1D protein1001
EWS/FLI fusion protein1001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Albumin0011
Albumin0011
Proprotein convertase subtilisin/kexin type 70101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 10101
Protease 0101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 1 0202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]