Wolman Disease

The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

Synonym
Wolman Disease

Excerpt	Reference
"Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy."	( Anderson, R; Ben-Yoseph, Y; Dusenbery, K; Krivit, W; Peters, C; Ramsay, NK; Wagner, JE, 2000)
"Wolman disease is a lethal lysosomal storage disease due to deficiency of lysosomal acid lipase (LAL)."	( Czarnecki, S; Du, H; Glick, JM; Grabowski, GA; Lohse, P; Rader, DJ; Sun, G; Tietge, UJ; Yu, Q, 2001)
"Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester."	( Barucha, BA; Muranjan, MN; Surve, TY, 2005)
"Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene."	( Asna Ashari, K; Azari-Yam, A; Shahrooei, M; Ziaee, V, 2023)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	12 (13.95)	23.3326
1990's	33 (38.37)	12.5806
2000's	15 (17.44)	18.1394
2010's	15 (17.44)	28.8240
2020's	11 (12.79)	9.53

Drug	Relationship Strength	Studies
carbamates	low	4
glycine	low	1
niacin	low	1
1-anilino-8-naphthalenesulfonate	low	53
chloroquine	low	3
prednisolone	low	1
galactose	low	1
tocopherols	low	2
lovastatin	low	3
simvastatin	low	1
atorvastatin	low	2
colestipol	low	1
nile red	low	1
lathosterol	low	1
fluorodeoxyglucose f18	low	1
7-ketocholesterol	low	4
homocysteine	low	1
delta-tocopherol	low	1
pyrenemethyl laurate	low	2
ezetimibe	low	2
mannose-6-phosphate	low	1
retinol	low	1
cholestane-3,5,6-triol	low	6
cytellin	low	1
hymecromone	low	1
triolein	low	2
cholestanol	low	2
g(m1) ganglioside	low	1
acebutolol	low	1
lalistat 2	low	4
filipin	low	1

Protein Targets (328)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain B, pheromone binding protein	0	0	1	1
Chain A, pheromone binding protein	0	0	1	1
Chain A, JmjC domain-containing histone demethylation protein 3A	4	0	0	4
Chain A, RNA-directed RNA polymerase NS5	0	1	0	1
acid sphingomyelinase	1	0	0	1
thioredoxin reductase	4	0	0	4
USP1 protein, partial	4	0	0	4
TDP1 protein	9	0	0	9
vitamin D3 receptor isoform VDRA	6	0	0	6
importin subunit beta-1 isoform 1	3	0	0	3
flap endonuclease 1	3	0	0	3
serine/threonine-protein kinase PLK1	3	0	0	3
snurportin-1	3	0	0	3
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	2	0	0	2
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
DNA polymerase eta isoform 1	1	0	0	1
DNA polymerase iota isoform a (long)	4	0	0	4
urokinase-type plasminogen activator precursor	3	0	0	3
plasminogen precursor	3	0	0	3
urokinase plasminogen activator surface receptor precursor	3	0	0	3
geminin	7	0	0	7
DNA polymerase kappa isoform 1	2	0	0	2
fibroblast growth factor 22 isoform 1 precursor	0	0	0	1
Mitogen-activated protein kinase 13	0	1	0	1
Beta-lactamase	0	1	0	1
Transthyretin	0	0	1	1
Fatty acid-binding protein, intestinal	0	1	1	2
Fatty acid-binding protein, adipocyte	0	1	1	2
Cyclin-A2	0	1	0	1
Cannabinoid receptor 1	0	0	1	1
Cyclin-dependent kinase 2	0	1	1	2
Choline O-acetyltransferase	0	1	0	1
Mitogen-activated protein kinase 12	0	1	0	1
Guanine nucleotide-binding protein G	1	0	0	1
Fatty acid-binding protein 5	0	0	1	1
Fatty acid-binding protein 5	0	0	1	1
Mitogen-activated protein kinase 11	0	1	0	1
Mitogen-activated protein kinase 14	0	1	0	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
NPC1-like intracellular cholesterol transporter 1	0	1	1	2
Chain A, Cruzipain	3	0	0	3
RAR-related orphan receptor gamma	6	0	0	6
SMAD family member 2	5	0	0	5
SMAD family member 3	5	0	0	5
GLI family zinc finger 3	8	0	0	8
AR protein	10	0	0	10
caspase 7, apoptosis-related cysteine protease	2	0	0	2
estrogen receptor 2 (ER beta)	6	0	0	6
nuclear receptor subfamily 1, group I, member 3	5	0	0	5
glucocorticoid receptor [Homo sapiens]	7	0	0	7
retinoic acid nuclear receptor alpha variant 1	7	0	0	7
retinoid X nuclear receptor alpha	5	0	0	5
estrogen-related nuclear receptor alpha	9	0	0	9
pregnane X nuclear receptor	5	0	0	5
estrogen nuclear receptor alpha	9	0	0	9
peroxisome proliferator-activated receptor delta	5	0	0	5
peroxisome proliferator activated receptor gamma	6	0	0	6
vitamin D (1,25- dihydroxyvitamin D3) receptor	5	0	0	5
caspase-3	2	0	0	2
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	5	0	0	5
Caspase-7	1	0	0	1
thyroid hormone receptor beta isoform a	1	0	0	1
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	5	0	0	5
nuclear factor erythroid 2-related factor 2 isoform 1	6	0	0	6
Voltage-dependent calcium channel gamma-2 subunit	4	0	0	4
Solute carrier organic anion transporter family member 2B1	0	0	0	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	5	0	5
Cellular tumor antigen p53	7	0	0	7
ATP-dependent translocase ABCB1	0	3	0	3
Insulin receptor	0	3	0	3
Glutamate receptor 2	4	0	0	4
Dipeptidyl peptidase 4	0	1	0	1
Prostaglandin G/H synthase 2	0	4	0	4
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	3	0	3
Histone deacetylase 1	0	2	0	2
Histone deacetylase 2	0	2	0	2
Solute carrier organic anion transporter family member 1B3	0	0	0	1
Histone deacetylase 6	0	2	0	2
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	0	1
Solute carrier organic anion transporter family member 1B1	0	3	0	4
PPM1D protein	1	0	0	1
glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase	0	1	0	1
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
Spike glycoprotein	0	1	1	2
Replicase polyprotein 1ab	0	1	1	2
glucose-6-phosphate 1-dehydrogenase isoform b	0	1	0	1
Transmembrane protease serine 2	0	1	1	2
ATP-binding cassette sub-family C member 3	0	5	0	5
Multidrug resistance-associated protein 4	0	5	0	5
Bile salt export pump	0	5	0	5
Dihydrofolate reductase	0	1	0	1
DNA ligase	0	1	0	1
Interferon beta	6	0	0	6
Riboflavin-binding protein	0	0	1	1
Major prion protein	0	0	1	1
Amyloid-beta precursor protein	0	3	0	3
Histidine-rich protein PFHRP-II	0	1	0	2
Procathepsin L	0	1	1	2
Muscarinic acetylcholine receptor M2	0	1	0	1
Muscarinic acetylcholine receptor M4	0	1	0	1
Cytochrome P450 3A4	0	1	0	1
Muscarinic acetylcholine receptor M5	0	1	0	1
Alpha-2A adrenergic receptor	0	1	0	1
Replicase polyprotein 1a	0	1	1	2
Replicase polyprotein 1ab	0	1	1	2
Replicase polyprotein 1ab	0	1	1	2
Spike glycoprotein	0	1	0	1
Replicase polyprotein 1ab	0	1	1	2
Muscarinic acetylcholine receptor M1	0	1	0	1
Ribosyldihydronicotinamide dehydrogenase [quinone]	0	1	0	1
Alpha-2B adrenergic receptor	0	1	0	1
Alpha-2C adrenergic receptor	0	1	0	1
DNA ligase 1	0	1	0	1
Muscarinic acetylcholine receptor M3	0	1	0	1
Serine/threonine-protein kinase mTOR	0	1	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	2	2
Beta-secretase 1	0	1	0	1
Spike glycoprotein	4	1	1	6
Calcium-dependent protein kinase 1	0	0	1	1
MO15-related protein kinase Pfmrk	0	1	0	1
DNA ligase A	0	1	0	1
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Sigma intracellular receptor 2	0	1	0	1
Phosphoethanolamine N-methyltransferase	0	1	0	1
Canalicular multispecific organic anion transporter 1	0	5	0	5
Ataxin-2	3	0	0	3
Sigma non-opioid intracellular receptor 1	0	1	0	1
Angiotensin-converting enzyme 2	0	1	1	2
Cysteine proteinase falcipain 2a	0	1	0	1
Cysteine proteinase falcipain 2a	0	1	0	1
acetylcholinesterase	3	0	0	3
G	4	0	0	4
Histone H2A.x	3	0	0	3
peripheral myelin protein 22	2	0	0	2
lamin isoform A-delta10	3	0	0	3
HLA class I histocompatibility antigen, B alpha chain	4	0	0	4
Inositol hexakisphosphate kinase 1	4	0	0	4
cytochrome P450 2C9, partial	4	0	0	4
progesterone receptor	4	0	0	4
cytochrome P450 family 3 subfamily A polypeptide 4	4	0	0	4
cytochrome P450 2D6	3	0	0	3
aryl hydrocarbon receptor	2	0	0	2
potassium voltage-gated channel subfamily H member 2 isoform d	3	0	0	3
nuclear receptor ROR-gamma isoform 1	3	0	0	3
neuropeptide S receptor isoform A	1	0	0	1
UDP-glucuronosyltransferase 2B7	0	0	0	1
UDP-glucuronosyltransferase 1A1	0	1	0	2
UDP-glucuronosyltransferase 1A3	0	0	0	1
Sodium/bile acid cotransporter	0	1	0	1
NPC1-like intracellular cholesterol transporter 1	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	3	0	0	3
IDH1	3	0	0	3
chromobox protein homolog 1	2	0	0	2
histone acetyltransferase KAT2A isoform 1	2	0	0	2
Beta-galactosidase	0	1	0	1
Lipopolysaccharide heptosyltransferase 1	0	1	0	1
PA-I galactophilic lectin	0	0	1	1
Jacalin	0	0	1	1
Glycine receptor subunit alpha-1	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	2	1	3
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	3
Glutamate receptor ionotropic, NMDA 2B	0	2	1	3
Glutamate receptor ionotropic, NMDA 2C	0	2	1	3
Large neutral amino acids transporter small subunit 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2D	0	2	1	3
Proton-coupled amino acid transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	2	1	3
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Glutamate receptor ionotropic, NMDA 3A	0	2	1	3
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	0	1	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	2	0	0	2
Chain A, Ferritin light chain	3	0	0	3
hypoxia-inducible factor 1 alpha subunit	4	0	0	4
GALC protein	1	0	0	1
aldehyde dehydrogenase 1 family, member A1	3	0	0	3
EWS/FLI fusion protein	3	0	0	3
farnesoid X nuclear receptor	3	0	0	3
glucocerebrosidase	1	0	0	1
alpha-galactosidase	1	0	0	1
activating transcription factor 6	2	0	0	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	4	0	0	4
lysosomal alpha-glucosidase preproprotein	2	0	0	2
cytochrome P450 2C9 precursor	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
heat shock protein beta-1	4	0	0	4
caspase-1 isoform alpha precursor	1	0	0	1
Acetylcholinesterase	0	1	0	1
Carbonic anhydrase 12	0	1	0	1
Carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 2	0	1	0	1
Aldo-keto reductase family 1 member B1	0	3	0	3
Aldo-keto reductase family 1 member B1	0	1	0	1
Nuclear factor NF-kappa-B p105 subunit	0	1	0	1
Genome polyprotein	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Testosterone 17-beta-dehydrogenase 3	0	1	0	1
Histamine H2 receptor	1	0	0	1
Caspase-7	1	0	0	1
Small conductance calcium-activated potassium channel protein 3	0	1	0	1
Cholinesterase	0	1	0	1
Sorbitol dehydrogenase	0	1	0	1
Induced myeloid leukemia cell differentiation protein Mcl-1	0	2	0	2
Carbonic anhydrase 9	0	1	0	1
Oleandomycin glycosyltransferase	0	0	0	1
Lysosomal acid lipase/cholesteryl ester hydrolase	0	1	0	1
Chain A, Antigen Cd11a (p180)	0	1	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
Chain A, Beta-lactamase	2	0	0	2
Chain A, Putative fructose-1,6-bisphosphate aldolase	1	0	0	1
15-lipoxygenase, partial	2	0	0	2
pregnane X receptor	2	0	0	2
phosphopantetheinyl transferase	2	0	0	2
Microtubule-associated protein tau	2	0	0	2
thioredoxin glutathione reductase	1	0	0	1
Smad3	2	0	0	2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
PINK1	2	0	0	2
thyroid stimulating hormone receptor	2	0	0	2
isocitrate dehydrogenase 1, partial	1	0	0	1
Parkin	2	0	0	2
thyrotropin-releasing hormone receptor	2	0	0	2
v-jun sarcoma virus 17 oncogene homolog (avian)	4	0	0	4
nuclear receptor subfamily 1, group I, member 2	3	0	0	3
nuclear factor erythroid 2-related factor 2 isoform 2	4	0	0	4
bcl-2-related protein A1	0	1	0	1
survival motor neuron protein isoform d	1	0	0	1
cytochrome P450 3A4 isoform 1	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	2	0	0	2
Integrin beta-2	0	1	0	1
Intercellular adhesion molecule 1	0	1	0	1
Neutrophil elastase	0	1	0	1
Androgen receptor	0	3	0	3
Gamma-aminobutyric acid receptor subunit beta-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit delta	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	2	0	0	2
Integrin alpha-L	0	1	1	2
Substance-K receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	2	0	0	2
Sodium-dependent noradrenaline transporter	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	2	0	0	2
Adenosine receptor A1	0	2	0	2
Nuclear receptor ROR-gamma	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-2	2	0	0	2
Sodium-dependent dopamine transporter	0	2	0	2
Lanosterol 14-alpha demethylase	0	1	0	1
Rap guanine nucleotide exchange factor 4	1	0	0	1
GABA theta subunit	2	0	0	2
Acyl-CoA:cholesterol acyltransferase	0	1	0	1
Gamma-aminobutyric acid receptor subunit epsilon	2	0	0	2
glp-1 receptor, partial	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	2	0	0	2
Polyphenol oxidase 2	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-4	1	0	0	1
Cholesteryl ester transfer protein	0	1	0	1
Cytochrome P450 2C9	0	2	1	3
Neuronal acetylcholine receptor subunit beta-2	1	0	0	1
D-amino-acid oxidase	0	1	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
Hydroxycarboxylic acid receptor 3	0	0	1	1
Nicotinamidase	0	1	0	1
Hydroxycarboxylic acid receptor 2	0	0	1	1
Hydroxycarboxylic acid receptor 2	0	2	1	3
Multidrug and toxin extrusion protein 1	0	1	0	1
D-aspartate oxidase	0	1	0	1
Hydroxycarboxylic acid receptor 2	0	1	1	2
ATP-dependent phosphofructokinase	1	0	0	1
Luciferase	1	0	0	1
BRCA1	1	0	0	1
WRN	1	0	0	1
ATAD5 protein, partial	1	0	0	1
NPC intracellular cholesterol transporter 1 precursor	1	0	0	1
DNA polymerase beta	1	0	0	1
ras-related protein Rab-9A	1	0	0	1
G-protein coupled receptor 55	0	0	1	1
muscleblind-like protein 1 isoform 1	1	0	0	1
DNA dC->dU-editing enzyme APOBEC-3F isoform a	1	0	0	1
luciferase	0	0	0	1
Fatty acid-binding protein, liver	0	1	0	1
Estrogen receptor	0	2	0	2
Glucocorticoid receptor	0	2	1	8
Progesterone receptor	0	2	0	3
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Glycine receptor subunit alpha-1	0	2	0	2
Corticosteroid-binding globulin	0	1	0	1
Mineralocorticoid receptor	0	2	1	3
Androgen receptor	0	2	0	2
Glutamine synthetase	0	0	1	1
Glycine receptor subunit beta	0	2	0	2
Glycine receptor subunit alpha-2	0	2	0	2
Glycine receptor subunit alpha-3	0	2	0	2
Histamine H1 receptor	0	0	1	1
Nociceptin receptor	0	0	1	1
Cytochrome P450 2J2	0	1	0	1
Estrogen receptor beta	0	2	0	2
ATPase family AAA domain-containing protein 5	2	0	0	2
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR	0	0	1	1
interleukin 8	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	1	0	0	1
mitogen-activated protein kinase 1	1	0	0	1
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
Retinol-binding protein 4	0	0	1	1
Beta-lactoglobulin	0	0	1	1
Alpha-synuclein	0	1	0	1
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
photoreceptor-specific nuclear receptor	0	1	0	1
transactivating tegument protein VP16 [Human herpesvirus 1]	0	1	0	1
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	1	0	0	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	1	0	1
TAR DNA-binding protein 43	1	0	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(1)

Research Excerpts

Overview

Research

Studies (86)

Protein Targets (328)

Wolman Disease

Synonyms(1)

Research Excerpts

Overview

Research

Studies (86)

Drugs Studied (37)

Protein Targets (328)