Page last updated: 2024-09-27

Cholesterol Ester Storage Disease

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

Synonyms(1)

Synonym
Cholesterol Ester Storage Disease

Research Excerpts

Overview

ExcerptReference
"Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency."( BharatKumar, PV; Bindu, PS; Christopher, R; Gayathri, N; Mahadevan, A; Netravathi, M; Panda, S; Ravishankar, S; Taly, AB; Yasha, TC, 2007)

Research

Studies (64)

TimeframeStudies, This Condition (%)All Conditions %
pre-19903 (4.69)23.3326
1990's35 (54.69)12.5806
2000's13 (20.31)18.1394
2010's10 (15.63)28.8240
2020's3 (4.69)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carbamates0low20
1-anilino-8-naphthalenesulfonate0medium360
chloroquine0low10
prednisolone0low10
histidine0low10
lovastatin0medium91
simvastatin0low30
homocysteine0low10
pyrenemethyl laurate0low10
proline0low10
ezetimibe0low20
glycogen0low10
mevalonic acid0low10
hymecromone0low10
phytosterols0low10
acid phosphatase0low10
lalistat 20low20
cholestyramine resin0low20

Protein Targets (308)

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 sphingomyelinase1001
thioredoxin reductase3003
USP1 protein, partial2002
TDP1 protein7007
vitamin D3 receptor isoform VDRA3003
importin subunit beta-1 isoform 12002
flap endonuclease 13003
serine/threonine-protein kinase PLK12002
snurportin-12002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)1001
urokinase-type plasminogen activator precursor3003
plasminogen precursor3003
urokinase plasminogen activator surface receptor precursor3003
geminin4004
DNA polymerase kappa isoform 11001
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 G1001
Fatty acid-binding protein 50011
Fatty acid-binding protein 50011
Mitogen-activated protein kinase 110101
Mitogen-activated protein kinase 140101
PPM1D protein1001
glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase0101
euchromatic histone-lysine N-methyltransferase 23003
Spike glycoprotein0112
Replicase polyprotein 1ab0112
glucose-6-phosphate 1-dehydrogenase isoform b0101
Transmembrane protease serine 20112
ATP-binding cassette sub-family C member 30505
Multidrug resistance-associated protein 40505
Bile salt export pump0505
Dihydrofolate reductase 0101
DNA ligase0101
Interferon beta5005
Riboflavin-binding protein0011
Major prion protein0011
Amyloid-beta precursor protein0101
Histidine-rich protein PFHRP-II0102
Procathepsin L0112
Muscarinic acetylcholine receptor M20101
Muscarinic acetylcholine receptor M40101
Cytochrome P450 3A40101
Muscarinic acetylcholine receptor M50101
Alpha-2A adrenergic receptor0101
Replicase polyprotein 1a0112
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Spike glycoprotein0101
Replicase polyprotein 1ab0112
Muscarinic acetylcholine receptor M10101
Ribosyldihydronicotinamide dehydrogenase [quinone]0101
Alpha-2B adrenergic receptor0101
Alpha-2C adrenergic receptor0101
DNA ligase 10101
Muscarinic acetylcholine receptor M30101
Serine/threonine-protein kinase mTOR0101
Nuclear receptor subfamily 4 group A member 20022
Beta-secretase 10101
Spike glycoprotein3115
Calcium-dependent protein kinase 10011
MO15-related protein kinase Pfmrk 0101
DNA ligase A0101
Potassium voltage-gated channel subfamily H member 20202
Sigma intracellular receptor 20101
Phosphoethanolamine N-methyltransferase0101
Canalicular multispecific organic anion transporter 10505
Ataxin-23003
Sigma non-opioid intracellular receptor 10101
Angiotensin-converting enzyme 2 0112
Cysteine proteinase falcipain 2a 0101
Cysteine proteinase falcipain 2a 0101
RAR-related orphan receptor gamma4004
GLI family zinc finger 35005
AR protein5005
estrogen receptor 2 (ER beta)4004
progesterone receptor4004
cytochrome P450 family 3 subfamily A polypeptide 44004
retinoic acid nuclear receptor alpha variant 14004
estrogen-related nuclear receptor alpha5005
pregnane X nuclear receptor3003
estrogen nuclear receptor alpha5005
G3003
cytochrome P450 2D63003
peroxisome proliferator activated receptor gamma4004
aryl hydrocarbon receptor2002
potassium voltage-gated channel subfamily H member 2 isoform d2002
thyroid hormone receptor beta isoform 23003
nuclear factor erythroid 2-related factor 2 isoform 14004
nuclear receptor ROR-gamma isoform 12002
neuropeptide S receptor isoform A1001
Voltage-dependent calcium channel gamma-2 subunit3003
HLA class I histocompatibility antigen, B alpha chain 3003
UDP-glucuronosyltransferase 2B70001
Glutamate receptor 23003
UDP-glucuronosyltransferase 1A1 0102
UDP-glucuronosyltransferase 1A30001
Sodium/bile acid cotransporter0101
NPC1-like intracellular cholesterol transporter 10101
Inositol hexakisphosphate kinase 13003
NPC1-like intracellular cholesterol transporter 10101
cytochrome P450 2C9, partial3003
Chain A, HISTIDINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
ATAD5 protein, partial1001
cytochrome P450 3A4 isoform 12002
histone acetyltransferase KAT2A isoform 12002
Gamma-aminobutyric acid receptor subunit pi2002
Carbonic anhydrase 120102
Carbonic anhydrase 10103
Carbonic anhydrase 20103
Plasma kallikrein0001
Carbonic anhydrase 30001
Histidine-binding periplasmic protein0011
Gamma-aminobutyric acid receptor subunit beta-12002
Gamma-aminobutyric acid receptor subunit delta2002
Gamma-aminobutyric acid receptor subunit gamma-22002
Gamma-aminobutyric acid receptor subunit alpha-52002
Gamma-aminobutyric acid receptor subunit alpha-32002
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Gamma-aminobutyric acid receptor subunit gamma-12002
Gamma-aminobutyric acid receptor subunit alpha-22002
Adenosine receptor A10001
5-hydroxytryptamine receptor 1D0001
Gamma-aminobutyric acid receptor subunit alpha-42002
Gamma-aminobutyric acid receptor subunit gamma-32002
Gamma-aminobutyric acid receptor subunit alpha-62002
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Glutamate receptor ionotropic, NMDA 1 0102
Carbonic anhydrase0001
Carbonic anhydrase 70001
Carbonic anhydrase0001
Gamma-aminobutyric acid receptor subunit alpha-12002
Gamma-aminobutyric acid receptor subunit beta-32002
Gamma-aminobutyric acid receptor subunit beta-22002
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10101
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 90102
Carbonic anhydrase 0001
Carbonic anhydrase-like protein, putative0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
Carbonic anhydrase 0001
Carbonic anhydrase 130001
Glutamate receptor ionotropic, NMDA 3B0001
GABA theta subunit2002
Carbonic anhydrase 40001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Gamma-aminobutyric acid receptor subunit epsilon2002
Glutamate receptor ionotropic, NMDA 3A0001
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
N(G),N(G)-dimethylarginine dimethylaminohydrolase 10101
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, Ferritin light chain3003
acetylcholinesterase1001
hypoxia-inducible factor 1 alpha subunit4004
SMAD family member 23003
GALC protein1001
SMAD family member 33003
aldehyde dehydrogenase 1 family, member A11001
nuclear receptor subfamily 1, group I, member 33003
EWS/FLI fusion protein3003
glucocorticoid receptor [Homo sapiens]4004
retinoid X nuclear receptor alpha3003
farnesoid X nuclear receptor3003
glucocerebrosidase1001
peroxisome proliferator-activated receptor delta3003
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
alpha-galactosidase1001
activating transcription factor 62002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
Histone H2A.x2002
lysosomal alpha-glucosidase preproprotein1001
cytochrome P450 2C9 precursor1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
chromobox protein homolog 11001
heat shock protein beta-13003
caspase-1 isoform alpha precursor1001
lamin isoform A-delta103003
Acetylcholinesterase0101
Cellular tumor antigen p534004
Aldo-keto reductase family 1 member B10303
Aldo-keto reductase family 1 member B10101
Nuclear factor NF-kappa-B p105 subunit0101
Genome polyprotein0101
Amine oxidase [flavin-containing] B0101
Testosterone 17-beta-dehydrogenase 30101
Histamine H2 receptor1001
Caspase-71001
Small conductance calcium-activated potassium channel protein 30101
Cholinesterase0101
Sorbitol dehydrogenase0101
Induced myeloid leukemia cell differentiation protein Mcl-10202
Oleandomycin glycosyltransferase0001
Lysosomal acid lipase/cholesteryl ester hydrolase0101
Chain A, Antigen Cd11a (p180)0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, Beta-lactamase2002
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, Cruzipain1001
15-lipoxygenase, partial1001
pregnane X receptor1001
phosphopantetheinyl transferase1001
Microtubule-associated protein tau1001
thioredoxin glutathione reductase1001
Smad32002
caspase 7, apoptosis-related cysteine protease1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
PINK12002
thyroid stimulating hormone receptor1001
isocitrate dehydrogenase 1, partial1001
Parkin2002
caspase-31001
IDH12002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
thyrotropin-releasing hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)3003
nuclear receptor subfamily 1, group I, member 23003
nuclear factor erythroid 2-related factor 2 isoform 23003
bcl-2-related protein A10101
survival motor neuron protein isoform d1001
3-hydroxy-3-methylglutaryl-coenzyme A reductase0303
Integrin beta-20101
Intercellular adhesion molecule 10101
ATP-dependent translocase ABCB10202
Neutrophil elastase0101
Insulin receptor 0202
Androgen receptor0303
Integrin alpha-L0112
Substance-K receptor0202
Sodium-dependent noradrenaline transporter 0202
Adenosine receptor A10202
Prostaglandin G/H synthase 20303
Nuclear receptor ROR-gamma1001
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0202
Sodium-dependent dopamine transporter 0202
Histone deacetylase 10101
Lanosterol 14-alpha demethylase0101
Rap guanine nucleotide exchange factor 41001
Histone deacetylase 20101
Acyl-CoA:cholesterol acyltransferase 0101
Histone deacetylase 60101
Solute carrier organic anion transporter family member 1B10202
luciferase0001
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor0218
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Cytochrome P450 2C9 0101
Glutamine synthetase0011
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Histamine H1 receptor0011
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
ATPase family AAA domain-containing protein 52002
lethal factor (plasmid)1001
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Neutral amino acid transporter A0101
Neutral amino acid transporter B(0)0101
Proton-coupled amino acid transporter 10101
Amino acid transporter0101
regulator of G-protein signaling 41001
bromodomain adjacent to zinc finger domain 2B1001
photoreceptor-specific nuclear receptor0101
transactivating tegument protein VP16 [Human herpesvirus 1]0101
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
3-hydroxy-3-methylglutaryl-coenzyme A reductase0101
TAR DNA-binding protein 431001
Sigma non-opioid intracellular receptor 10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]