Berardinelli Syndrome

It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2).

Synonym
Brunzell Syndrome, BSCL2-Related
Berardinelli-Seip Congenital Lipodystrophy, Type 2
Congenital Lipoatrophic Diabetes
Brunzell Syndrome
Berardinelli-Seip Syndrome
Lipodystrophy, Total, And Acromegaloid Gigantism
Brunzell Syndrome (with Bone Cysts)
Berardinelli-Seip Congenital Lipodystrophy
Generalized Lipodystrophy
Brunzell Syndrome, AGPAT2-Related
Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 1
Seip Syndrome
Total Lipodystrophy and Acromegaloid Gigantism
Lipoatrophic Diabetes, Congenital
Lipodystrophy, Berardinelli-Seip Congenital, Type 1
Total Lipodystrophy
Lipodystrophy, Berardinelli-Seip Congenital, Type 2
Lipodystrophy, Congenital Generalized, Type 2
Berardinelli Syndrome
Berardinelli-Seip Congenital Lipodystrophy Type 1
Berardinelli-Seip Congenital Lipodystrophy Type 2
Berardinelli-Seip Congenital Lipodystrophy, Type 1
Congenital Generalized Lipodystrophy Type 2

Excerpt	Reference
"Berardinelli-Seip syndrome is a rare congenital lipoatrophy with a severe prognosis and no efficient therapy."	( Beltrand, J; Beregszaszi, M; Chevenne, D; De Kerdanet, M; De Paoli, AM; Huet, F; Lacombe, D; Levy-Marchal, C; Polak, M; Sebag, G; Tubiana-Rufi, N, 2007)
"Beradinelli-Seip congenital generalized lipodystrophy is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue, Herculean appearance, insulin resistance, hypoleptinaemia and diabetes mellitus."	( Araújo-Vilar, D; Barreiro, F; Cabezas-Agrícola, JM; Calvo, C; Del Coco, R; González-Méndez, B; Lado-Abeal, J; Lattanzi, G; Loidi, L; Victoria, B, 2010)
"Berardinelli- Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidemia in childhood and development of diabetes in adolescence."	( Dhull, P; Kumar, KV; Patnaik, SK; Upreti, V, 2012)
"Berardinelli-Seip syndrome is very uncommon, and the present case is particularly rare because it is the only case (at least as reported in the literature) in a patient receiving dialysis."	( Bande-Fernández, JJ; Coronel-Aguilar, D; Del Rio-García, L; García-Castro, R; Hidalgo, C; Istanbuli, B; Merino-Bueno, C; Rodríguez-Suárez, C; Sánchez-Alvarez, JE, 2015)
"Berardinelli-Seip congenital generalized lipodystrophy is associated with increased bone mass suggesting that fat tissue regulates the skeleton."	( Brestoff, JR; Brodt, MD; Craft, CS; Harris, CA; Migotsky, N; Rohatgi, N; Scheller, EL; Silva, MJ; Teitelbaum, SL; Zhang, Y; Zou, W, 2019)

Excerpt	Reference
"Berardinelli-Seip syndrome is a rare congenital lipoatrophy with a severe prognosis and no efficient therapy."	( Beltrand, J; Beregszaszi, M; Chevenne, D; De Kerdanet, M; De Paoli, AM; Huet, F; Lacombe, D; Levy-Marchal, C; Polak, M; Sebag, G; Tubiana-Rufi, N, 2007)
"In patients with generalized lipodystrophy, long-term treatment with metreleptin was well tolerated and resulted in sustained improvements in hypertriglyceridemia, glycemic control, and liver volume."	( Araújo-Vilar, D; Brown, RJ; Cochran, E; Fine, G; Gorden, P; Long, A; Oral, EA; Salinardi, T; Savage, DB, 2018)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	2 (2.82)	23.3326
1990's	0 (0.00)	12.5806
2000's	8 (11.27)	18.1394
2010's	44 (61.97)	28.8240
2020's	17 (23.94)	9.53

Drug	Relationship Strength	Studies	Trials
nitrous oxide	low	1	0
palmitic acid	low	1	0
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid	low	1	0
1-anilino-8-naphthalenesulfonate	low	2	0
eicosapentaenoic acid ethyl ester	low	1	0
fenofibrate	low	1	0
1-methyl-3-isobutylxanthine	low	1	0
metformin	low	1	0
pioglitazone	low	5	0
propranolol	low	1	0
sevoflurane	low	1	0
medroxyprogesterone acetate	low	1	0
pyrroles	low	1	0
fructosamine	low	1	0
bezafibrate	low	1	0
atorvastatin	low	1	0
rosiglitazone	low	1	0
glycogen	low	1	0
oleic acid	low	1	0
eicosapentaenoic acid	low	1	0
6-cyano-7-nitroquinoxaline-2,3-dione	low	1	0
17-ketosteroids	low	2	0
genistein	low	1	0
phosphocreatine	low	1	0
leptin	medium	47	5

Protein Targets (541)

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	2	0	0	2
thioredoxin reductase	5	0	0	5
USP1 protein, partial	7	0	0	7
TDP1 protein	8	0	0	8
vitamin D3 receptor isoform VDRA	3	0	0	3
importin subunit beta-1 isoform 1	1	0	0	1
flap endonuclease 1	4	0	0	4
serine/threonine-protein kinase PLK1	2	0	0	2
snurportin-1	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
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)	2	0	0	2
urokinase-type plasminogen activator precursor	2	0	0	2
plasminogen precursor	2	0	0	2
urokinase plasminogen activator surface receptor precursor	2	0	0	2
geminin	8	0	0	8
DNA polymerase kappa isoform 1	3	0	0	3
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	1	1	2
Fatty acid-binding protein, intestinal	0	4	2	6
Fatty acid-binding protein, adipocyte	0	5	2	7
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	2	0	0	2
Fatty acid-binding protein 5	0	3	2	5
Fatty acid-binding protein 5	0	0	1	1
Mitogen-activated protein kinase 11	0	1	0	1
Mitogen-activated protein kinase 14	0	2	0	2
Chain A, High-affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A	0	1	0	1
Chain A, cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	1	0	1
Chain A, Phosphodiesterase 9A	0	1	0	1
Chain A, Class I phosphodiesterase PDEB1	0	1	0	1
Chain A, High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A	0	1	0	1
Chain A, cGMP-dependent 3',5'-cyclic phosphodiesterase	0	1	0	1
Chain A, cGMP-specific 3',5'-cyclic phosphodiesterase catalytic domain, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha chimera	0	1	0	1
Chain A, cGMP-specific 3',5'-cyclic phosphodiesterase catalytic domain, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha chimera	0	1	0	1
Chain A, High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A	0	1	0	1
Chain A, High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A	0	1	0	1
glp-1 receptor, partial	2	0	0	2
thyroid stimulating hormone receptor	3	0	0	3
estrogen-related nuclear receptor alpha	7	0	0	7
Phosphodiesterase	0	1	0	1
mitogen-activated protein kinase 1	3	0	0	3
cytochrome P450 3A4 isoform 1	5	0	0	5
histone acetyltransferase KAT2A isoform 1	4	0	0	4
cGMP-dependent 3',5'-cyclic phosphodiesterase	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	5	1	1	7
Monocarboxylate transporter 4	0	1	0	1
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A	0	1	0	1
cGMP-specific 3',5'-cyclic phosphodiesterase	0	2	0	2
High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A	0	1	0	1
Renin	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4C	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-1	5	1	1	7
Gamma-aminobutyric acid receptor subunit delta	5	1	1	7
Gamma-aminobutyric acid receptor subunit gamma-2	5	1	1	7
Gamma-aminobutyric acid receptor subunit alpha-5	5	1	1	7
Gamma-aminobutyric acid receptor subunit alpha-3	5	1	1	7
Gamma-aminobutyric acid receptor subunit gamma-1	5	2	1	8
Gamma-aminobutyric acid receptor subunit alpha-2	5	1	1	7
Adenosine receptor A1	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	5	1	1	7
Gamma-aminobutyric acid receptor subunit gamma-3	5	1	1	7
Adenosine receptor A3	0	1	0	1
Adenosine receptor A2a	0	3	1	5
Adenosine receptor A2b	0	0	0	1
Adenosine receptor A2b	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	5	1	1	7
Adenosine receptor A1	0	2	1	5
Adenosine receptor A2a	0	3	0	3
Sodium-dependent serotonin transporter	0	2	0	2
Adenosine receptor A2a	0	1	0	1
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	5	1	1	7
Gamma-aminobutyric acid receptor subunit beta-3	5	1	1	7
Gamma-aminobutyric acid receptor subunit beta-2	5	1	1	7
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	1	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase B	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	2	0	2
High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A	0	2	0	2
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	0	1	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase A	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	0	1	0	1
Phosphodiesterase	0	1	0	1
GABA theta subunit	5	1	1	7
Phosphodiesterase	0	1	0	1
Gamma-aminobutyric acid receptor subunit epsilon	5	1	1	7
cAMP-specific 3',5'-cyclic phosphodiesterase 7B	0	1	0	1
15-lipoxygenase, partial	2	0	0	2
Microtubule-associated protein tau	4	0	0	4
glucocerebrosidase	2	0	0	2
lethal factor (plasmid)	2	0	0	2
Glutamate receptor 1	0	3	1	4
Glutamate receptor 2	0	3	1	4
Glutamate receptor 3	0	3	0	3
Glutamate receptor 4	0	3	0	3
Inositol monophosphatase 1	1	0	0	1
arylsulfatase A	3	0	0	3
euchromatic histone-lysine N-methyltransferase 2	6	0	0	6
chromobox protein homolog 1	4	0	0	4
Glutamate receptor ionotropic, NMDA 2D	0	1	2	3
Glutamate receptor ionotropic, NMDA 3B	0	1	2	3
Integrin beta-3	1	1	0	2
Integrin alpha-IIb	1	1	0	2
Glutamate receptor 1	0	2	1	3
Glutamate receptor 2	4	2	1	7
Glutamate receptor 3	0	2	1	3
Glutamate receptor 4	0	2	1	3
Glutamate receptor ionotropic, kainate 1	0	2	0	2
Glutamate receptor 1	0	1	1	2
Glutamate receptor 2	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	2	1	3
Glutamate receptor ionotropic, kainate 1	0	2	0	2
Glutamate receptor ionotropic, kainate 2	0	2	0	2
Glutamate receptor ionotropic, kainate 3	0	1	0	1
Excitatory amino acid transporter 1	0	1	0	1
Excitatory amino acid transporter 2	0	1	0	1
Excitatory amino acid transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	0	2
Glutamate receptor ionotropic, NMDA 2B	0	2	0	2
Glutamate receptor ionotropic, NMDA 2C	0	2	0	2
Glutamate receptor ionotropic, kainate 4	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	1	2	3
Glutamate receptor ionotropic, NMDA 2A	0	1	2	3
Glutamate receptor ionotropic, kainate 2	0	2	0	2
Glutamate receptor ionotropic, kainate 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2B	0	1	2	3
Glutamate receptor ionotropic, NMDA 2C	0	1	2	3
Glutamate receptor ionotropic, kainate 4	0	1	0	1
Glutamate receptor ionotropic, kainate 5	0	1	0	1
Glutamate receptor ionotropic, NMDA 2D	0	2	0	2
Glutamate receptor ionotropic, kainate 5	0	1	0	1
Glutamate receptor ionotropic, NMDA 3A	0	1	2	3
Glutamate receptor ionotropic, NMDA 3B	0	2	0	2
Glutamate receptor ionotropic, NMDA 3A	0	2	0	2
Glutamate receptor 4	0	1	0	1
Glutamate receptor 3	0	1	0	1
Chain A, Cruzipain	2	0	0	2
RAR-related orphan receptor gamma	7	0	0	7
SMAD family member 2	3	0	0	3
SMAD family member 3	3	0	0	3
GLI family zinc finger 3	5	0	0	5
AR protein	7	0	0	7
caspase 7, apoptosis-related cysteine protease	1	0	0	1
estrogen receptor 2 (ER beta)	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	6	0	0	6
glucocorticoid receptor [Homo sapiens]	6	0	0	6
retinoic acid nuclear receptor alpha variant 1	7	0	0	7
retinoid X nuclear receptor alpha	4	0	0	4
pregnane X nuclear receptor	5	0	0	5
estrogen nuclear receptor alpha	10	0	0	10
peroxisome proliferator-activated receptor delta	6	0	0	6
peroxisome proliferator activated receptor gamma	8	0	0	8
vitamin D (1,25- dihydroxyvitamin D3) receptor	5	0	0	5
caspase-3	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	6	0	0	6
Caspase-7	1	0	0	1
thyroid hormone receptor beta isoform a	3	0	0	3
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	7	0	0	7
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	2	0	2
Cellular tumor antigen p53	7	0	0	7
ATP-dependent translocase ABCB1	0	3	1	4
Insulin receptor	0	1	0	1
Dipeptidyl peptidase 4	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	1	0	1
Histone deacetylase 1	0	3	0	3
Histone deacetylase 2	0	3	0	3
Solute carrier organic anion transporter family member 1B3	0	2	0	3
Histone deacetylase 6	0	3	0	3
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	3	0	3
Solute carrier organic anion transporter family member 1B1	0	3	0	4
Luciferase	6	0	0	6
phosphopantetheinyl transferase	3	0	0	3
aldehyde dehydrogenase 1 family, member A1	5	0	0	5
farnesoid X nuclear receptor	7	0	0	7
G	4	0	0	4
D(1A) dopamine receptor	2	0	0	2
survival motor neuron protein isoform d	3	0	0	3
Bile salt export pump	0	5	0	5
5-hydroxytryptamine receptor 4	0	6	2	8
Bile salt export pump	0	8	0	8
Interferon beta	4	0	0	4
HLA class I histocompatibility antigen, B alpha chain	4	0	0	4
Fatty acid-binding protein, liver	0	3	1	4
Muscarinic acetylcholine receptor M1	0	0	4	4
Muscarinic acetylcholine receptor M3	0	0	4	4
Muscarinic acetylcholine receptor M4	0	0	4	4
Muscarinic acetylcholine receptor M5	0	0	4	4
Muscarinic acetylcholine receptor M2	0	0	4	4
Peroxisome proliferator-activated receptor alpha	0	2	3	5
Peroxisome proliferator-activated receptor delta	0	0	1	1
Peroxisome proliferator-activated receptor gamma	0	5	7	14
Peroxisome proliferator-activated receptor gamma	0	1	4	5
Peroxisome proliferator-activated receptor delta	0	2	2	5
Peroxisome proliferator-activated receptor alpha	2	4	6	12
Inositol hexakisphosphate kinase 1	4	0	0	4
cytochrome P450 2C9, partial	4	0	0	4
Chain A, Protein (peroxisome Proliferator Activated Receptor (ppar-delta))	0	1	0	1
GLS protein	2	0	0	2
regulator of G-protein signaling 4	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	2	0	0	2
Prostaglandin G/H synthase 1	0	3	0	3
Trypsin	0	2	0	2
Cytochrome P450 1A2	0	2	0	2
Coagulation factor VII	0	2	0	2
Aromatase	0	3	0	3
Tissue factor	0	3	0	3
Retinoic acid receptor RXR-alpha	0	1	0	1
Prostaglandin G/H synthase 2	0	3	0	3
Oxoeicosanoid receptor 1	0	1	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	3	0	0	3
Chain A, Ferritin light chain	3	0	0	3
endonuclease IV	1	0	0	1
ATAD5 protein, partial	4	0	0	4
progesterone receptor	3	0	0	3
EWS/FLI fusion protein	5	0	0	5
nonstructural protein 1	2	0	0	2
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
aryl hydrocarbon receptor	2	0	0	2
thyroid stimulating hormone receptor	2	0	0	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	3	0	0	3
serine-protein kinase ATM isoform a	2	0	0	2
Bloom syndrome protein isoform 1	3	0	0	3
peripheral myelin protein 22 isoform 1	2	0	0	2
cytochrome P450 2C19 precursor	2	0	0	2
cytochrome P450 2C9 precursor	2	0	0	2
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	3	0	0	3
potassium voltage-gated channel subfamily H member 2 isoform d	2	0	0	2
heat shock protein beta-1	2	0	0	2
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
nuclear receptor ROR-gamma isoform 1	2	0	0	2
M-phase phosphoprotein 8	2	0	0	2
muscarinic acetylcholine receptor M1	1	0	0	1
lamin isoform A-delta10	5	0	0	5
neuropeptide S receptor isoform A	2	0	0	2
ATP-binding cassette sub-family C member 3	0	6	0	6
Multidrug resistance-associated protein 4	0	6	0	6
Fatty acid-binding protein, liver	0	1	1	2
Aldo-keto reductase family 1 member B1	0	3	0	3
Adenosine receptor A3	0	3	1	4
Beta-3 adrenergic receptor	0	4	1	5
Alpha-1B adrenergic receptor	0	3	1	4
Acetylcholinesterase	0	1	0	1
Sodium-dependent noradrenaline transporter	0	2	0	2
Cruzipain	0	2	0	2
5-hydroxytryptamine receptor 2A	0	6	1	7
5-hydroxytryptamine receptor 2C	0	6	1	7
D(3) dopamine receptor	0	2	0	2
Peroxisome proliferator-activated receptor alpha	0	0	1	1
Alpha-1A adrenergic receptor	0	3	1	4
Histamine H2 receptor	2	0	0	2
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
Sodium-dependent dopamine transporter	0	4	0	4
Canalicular multispecific organic anion transporter 1	0	4	0	4
Sigma non-opioid intracellular receptor 1	0	0	1	1
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, Estrogen receptor 1 (alpha)	0	1	0	1
Chain A, Transthyretin	0	0	1	1
Chain A, Transthyretin	0	0	1	1
BRCA1	1	0	0	1
PPM1D protein	1	0	0	1
Thrombopoietin	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	4	0	0	4
cytochrome P450 2D6	1	0	0	1
Neuraminidase	0	1	0	1
67.9K protein	1	0	0	1
Parkin	2	0	0	2
P53	1	0	0	1
Alpha-mannosidase	0	1	0	1
pyruvate kinase	1	0	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
activating transcription factor 6	1	0	0	1
Histone H2A.x	1	0	0	1
hexokinase-4 isoform 1	1	0	0	1
NPC intracellular cholesterol transporter 1 precursor	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	2	0	0	2
histone deacetylase 9 isoform 3	1	0	0	1
glucokinase regulatory protein	1	0	0	1
glycogen synthase kinase-3 beta isoform 1	0	0	1	1
DNA polymerase beta	1	0	0	1
ras-related protein Rab-9A	1	0	0	1
tyrosine-protein kinase Yes	2	0	0	2
peripheral myelin protein 22	3	0	0	3
pyruvate kinase PKM isoform b	1	0	0	1
Maltase-glucoamylase, intestinal	0	2	0	2
Steroid hormone receptor ERR2	0	1	0	1
Tyrosine-protein kinase ABL1	0	1	0	1
Epidermal growth factor receptor	0	1	0	1
Pancreatic triacylglycerol lipase	0	1	0	1
Triosephosphate isomerase	0	1	0	1
Estrogen receptor	0	3	2	5
Glucocorticoid receptor	0	2	1	4
Sex hormone-binding globulin	0	0	2	2
Tyrosine-protein kinase Fyn	0	1	0	1
Cyclin-dependent kinase 1	0	1	0	1
Ornithine decarboxylase	1	0	0	1
Androgen receptor	0	3	2	6
Sialidase	0	1	0	1
Solute carrier family 2, facilitated glucose transporter member 1	0	1	0	1
Tyrosinase	0	1	0	1
Steroid hormone receptor ERR1	0	1	0	1
Cyclin-dependent kinase 4	0	1	0	1
Ornithine decarboxylase	0	1	0	1
Polyunsaturated fatty acid lipoxygenase ALOX15	0	1	0	1
Proto-oncogene tyrosine-protein kinase Src	0	1	0	1
Cystic fibrosis transmembrane conductance regulator	0	0	1	1
17-beta-hydroxysteroid dehydrogenase type 1	0	1	0	1
Solute carrier family 2, facilitated glucose transporter member 4	0	1	0	1
G2/mitotic-specific cyclin-B1	0	1	0	1
Dipeptidyl peptidase 4	0	1	0	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Androgen receptor	0	3	0	3
Protein kinase C alpha type	0	1	0	2
cAMP-dependent protein kinase catalytic subunit alpha	0	1	0	1
Amine oxidase [flavin-containing] A	0	3	0	3
Amine oxidase [flavin-containing] A	0	3	0	3
Amine oxidase [flavin-containing] A	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
G1/S-specific cyclin-D1	0	1	0	1
Thromboxane-A synthase	0	2	0	2
DNA (cytosine-5)-methyltransferase 1	0	1	0	1
Amine oxidase [flavin-containing] B	0	5	0	5
Dipeptidyl peptidase 4	0	2	0	2
Proteasome subunit beta type-5	0	1	0	1
Substance-P receptor	0	1	0	1
RAC-alpha serine/threonine-protein kinase	0	1	0	1
Cystic fibrosis transmembrane conductance regulator	0	0	1	1
Testosterone 17-beta-dehydrogenase 3	0	1	0	1
17-beta-hydroxysteroid dehydrogenase type 2	0	1	0	1
Acetylcholinesterase	0	1	0	1
Alpha-glucosidase MAL32	0	1	0	1
Signal transducer and activator of transcription 3	0	1	0	1
Tyrosine-protein kinase CSK	0	1	0	1
Tyrosine-protein kinase ABL2	0	1	0	1
Tyrosine-protein kinase SYK	0	1	0	1
Dual specificity mitogen-activated protein kinase kinase 4	0	1	0	1
Quinone oxidoreductase	0	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
Cytoplasmic tyrosine-protein kinase BMX	0	1	0	1
Death-associated protein kinase 1	0	1	0	1
Mitogen-activated protein kinase 10	0	1	0	1
Oxysterols receptor LXR-beta	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Spike glycoprotein	3	0	0	3
Xanthine dehydrogenase/oxidase	0	1	0	1
MO15-related protein kinase Pfmrk	0	1	0	1
Aldehyde oxidase	0	1	0	1
Oxysterols receptor LXR-alpha	0	1	0	1
Tissue alpha-L-fucosidase	0	1	0	1
Substance-K receptor	0	1	0	1
Integrase	0	1	0	1
Estrogen receptor beta	0	3	2	5
Beta-hydroxyacyl-ACP dehydratase precursor (Fatty acid synthesis protein)	0	1	0	1
ATPase family AAA domain-containing protein 5	2	0	0	2
Ataxin-2	3	0	0	3
Prenyltransferase homolog	0	0	0	1
Carboxylic ester hydrolase	0	1	0	1
Dipeptidyl peptidase 3	0	1	0	1
DNA (cytosine-5)-methyltransferase 3-like	0	1	0	1
Sialidase-2	0	1	0	1
DNA (cytosine-5)-methyltransferase 3A	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	3	0	0	3
Chain A, Beta-lactamase	1	0	0	1
interleukin 8	1	0	0	1
pregnane X receptor	2	0	0	2
PINK1	1	0	0	1
IDH1	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	2	0	0	2
nuclear receptor subfamily 1, group I, member 2	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 2	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
Progesterone receptor	0	2	1	3
Glycine receptor subunit alpha-1	0	2	0	2
Mineralocorticoid receptor	0	1	0	1
Androgen receptor	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 H2 receptor	0	2	0	2
5-hydroxytryptamine receptor 1B	0	3	0	3
Alpha-synuclein	1	0	0	1
Aldo-keto reductase family 1 member C3	0	1	0	1
Nuclear receptor ROR-gamma	3	0	0	3
Aldo-keto reductase family 1 member C2	0	1	0	1
Aldo-keto reductase family 1 member C1	0	1	0	1
Solute carrier family 22 member 2	0	1	0	1
Solute carrier family 22 member 1	0	2	0	2
Dihydrofolate reductase	0	1	0	1
Solute carrier family 22 member 1	0	0	0	1
Multidrug and toxin extrusion protein 1	0	1	0	1
Chain A, Adipocyte Lipid-binding Protein	0	0	1	1
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, MUSCLE FATTY ACID BINDING PROTEIN	0	0	1	1
Chain A, MUSCLE FATTY ACID BINDING PROTEIN	0	0	1	1
Chain A, MUSCLE FATTY ACID BINDING PROTEIN	0	0	1	1
Chain A, HADH2 protein	2	0	0	2
Chain B, HADH2 protein	2	0	0	2
Chain A, BCL-2-RELATED PROTEIN A1	0	0	1	1
putative potassium channel subunit	0	0	1	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
bcl-2-like protein 11 isoform 1	0	0	1	1
Fatty-acid amide hydrolase 1	0	1	0	1
Sterol O-acyltransferase 1	0	1	0	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
Seed linoleate 13S-lipoxygenase-1	0	1	0	1
DNA topoisomerase 1	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 1	0	4	0	4
Sterol O-acyltransferase 1	0	1	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Rap guanine nucleotide exchange factor 4	1	0	0	1
Transient receptor potential cation channel subfamily V member 2	0	2	0	2
Chain A, Fatty acid-binding protein, adipocyte	0	1	0	1
acetylcholinesterase	1	0	0	1
Acetylcholinesterase	0	1	0	1
Toll-like receptor 2	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
CDGSH iron-sulfur domain-containing protein 1	0	2	0	2
Free fatty acid receptor 1	0	0	2	2
Peroxisome proliferator-activated receptor gamma	0	1	0	1
Carbonic anhydrase 2	0	2	0	2
Steryl-sulfatase	0	1	0	1
Carnitine O-palmitoyltransferase 2, mitochondrial	0	2	0	2
Amine oxidase [flavin-containing] B	0	2	0	2
Carnitine O-palmitoyltransferase 2, mitochondrial	0	2	0	2
Carnitine O-palmitoyltransferase 1, liver isoform	0	2	0	2
Enoyl-[acyl-carrier-protein] reductase [NADH]	0	1	0	1
CDGSH iron-sulfur domain-containing protein 2	0	2	0	2
CDGSH iron-sulfur domain-containing protein 1	0	4	0	4
Beta-1 adrenergic receptor	0	1	1	3
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Albumin	0	0	1	1
Beta-2 adrenergic receptor	0	2	1	3
Muscarinic acetylcholine receptor M2	0	1	1	2
Beta-1 adrenergic receptor	0	2	1	3
Cytochrome P450 3A4	0	1	1	2
5-hydroxytryptamine receptor 1A	0	1	0	1
Alpha-2A adrenergic receptor	0	1	2	4
Beta-2 adrenergic receptor	0	2	0	3
Cytochrome P450 2C8	0	1	0	1
Cytochrome P450 2D6	0	1	0	1
Muscarinic acetylcholine receptor M1	0	1	1	2
Cytochrome P450 2C9	0	1	1	2
D(2) dopamine receptor	0	1	1	2
Alpha-2B adrenergic receptor	0	0	1	2
Beta-1 adrenergic receptor	0	2	1	4
Alpha-2C adrenergic receptor	0	1	2	4
D(3) dopamine receptor	0	1	0	1
5-hydroxytryptamine receptor 1A	0	2	1	4
Alpha-2B adrenergic receptor	0	0	1	1
Muscarinic acetylcholine receptor M3	0	1	1	2
D(1A) dopamine receptor	0	1	1	2
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Alpha-2C adrenergic receptor	0	0	1	1
Alpha-2A adrenergic receptor	0	0	1	1
Alpha-1D adrenergic receptor	0	1	1	2
Alpha-1D adrenergic receptor	0	0	1	2
Endothelin-1 receptor	0	1	1	2
Beta-3 adrenergic receptor	0	2	0	2
5-hydroxytryptamine receptor 1B	0	2	1	3
Neuromedin-K receptor	0	0	1	1
Type-1 angiotensin II receptor	0	1	1	2
Sodium-dependent serotonin transporter	0	2	0	2
Cholecystokinin receptor type A	0	1	1	2
Cytochrome P450 2C19	0	1	0	1
5-hydroxytryptamine receptor 7	0	1	1	2
Beta-1 adrenergic receptor	0	1	0	1
Alpha-1A adrenergic receptor	0	1	2	4
Alpha-1B adrenergic receptor	0	0	1	2
Mu-type opioid receptor	0	1	1	2
Vasopressin V1a receptor	0	1	1	2
Delta-type opioid receptor	0	1	1	2
Kappa-type opioid receptor	0	1	1	2
5-hydroxytryptamine receptor 2B	0	2	1	3
5-hydroxytryptamine receptor 6	0	2	1	3
5-hydroxytryptamine receptor 7	0	1	0	1
Cytochrome P450 2J2	0	1	0	1
Beta-2 adrenergic receptor	0	1	0	1
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Sodium channel protein type 5 subunit alpha	0	1	0	1
Sodium/bile acid cotransporter	0	2	0	2
Beta-2 adrenergic receptor	0	1	1	3
Sigma non-opioid intracellular receptor 1	0	2	0	2
Nuclear receptor subfamily 2 group E member 1	0	0	2	2
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
thyrotropin-releasing hormone receptor	1	0	0	1
Cytochrome P450 3A5	0	0	1	1
Catechol O-methyltransferase	0	0	1	1
C-C chemokine receptor type 2	0	1	0	1
Cannabinoid receptor 2	0	0	1	1
Mu-type opioid receptor	0	1	0	1
ATP-binding cassette sub-family C member 8	0	1	0	1
ATP-sensitive inward rectifier potassium channel 11	0	1	0	1
Thrombin	0	0	1	1
Cocaine esterase	0	1	0	1
Histone deacetylase 3	0	2	0	2
UDP-glucuronosyltransferase 1A9	0	0	0	1
Cytochrome P450 2A6	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
UDP-glucuronosyltransferase 2B7	0	1	0	2
UDP-glucuronosyltransferase 1-6	0	0	0	1
Liver carboxylesterase 1	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
Histone deacetylase 4	0	2	0	2
Aldo-keto reductase family 1 member A1	0	1	0	1
Aldo-keto reductase family 1 member B7	0	1	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
Histone deacetylase 7	0	2	0	2
Polyamine deacetylase HDAC10	0	2	0	2
Histone deacetylase 11	0	2	0	2
Histone deacetylase 8	0	2	0	2
NAD-dependent protein deacylase sirtuin-5, mitochondrial	0	1	0	1
Histone deacetylase 9	0	2	0	2
Histone deacetylase 5	0	2	0	2
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(25)

Research Excerpts

Overview

Treatment

Research

Studies (71)

Protein Targets (541)

Berardinelli Syndrome

Synonyms(25)

Research Excerpts

Overview

Treatment

Research

Studies (71)

Drugs Studied (34)

Protein Targets (541)