Page last updated: 2024-09-27

Rubinstein-Taybi Syndrome

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Synonyms(1)

Synonym
Rubinstein-Taybi Syndrome

Research

Studies (52)

TimeframeStudies, This Condition (%)All Conditions %
pre-199016 (30.77)23.3326
1990's8 (15.38)12.5806
2000's9 (17.31)18.1394
2010's15 (28.85)28.8240
2020's4 (7.69)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low20
cytosine0low10
glycine0low10
nitrous oxide0low20
valproic acid0low10
isoflurane0low10
2-propanol0low10
khellin0low120
propofol0low30
rolipram0low10
sevoflurane0low30
succinylcholine0low10
thyroxine0low20
prednisone0low10
triiodothyronine0low10
serine0low10
aspartic acid0low10
lysine0low10
technetium0low10
triamcinolone0low10
atracurium0low10
remifentanil0low20
5-methylcytosine0low10
5-hydroxymethylcytosine0low10
glycogen0low10
trichostatin a0low10
isomethyleugenol0low30
thiopental0low10
cystine0low10
phenylephrine hydrochloride0low10
dynorphins0low10
piperidines0low20

Protein Targets (450)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma7007
GLI family zinc finger 39009
AR protein7007
aldehyde dehydrogenase 1 family, member A16006
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha3003
estrogen nuclear receptor alpha110011
peroxisome proliferator-activated receptor delta2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a8008
activating transcription factor 62002
v-jun sarcoma virus 17 oncogene homolog (avian)4004
Histone H2A.x2002
thyroid hormone receptor beta isoform a5005
heat shock protein beta-14004
nuclear factor erythroid 2-related factor 2 isoform 18008
lamin isoform A-delta108008
Voltage-dependent calcium channel gamma-2 subunit1001
Glutamate receptor 21001
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, Ferritin light chain4004
phosphopantetheinyl transferase2002
arylsulfatase A3003
euchromatic histone-lysine N-methyltransferase 28008
Bloom syndrome protein isoform 15005
cytochrome P450 2C19 precursor2002
lethal factor (plasmid)2002
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
Carbonic anhydrase 10304
Carbonic anhydrase 20304
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0314
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0314
Glutamate receptor ionotropic, NMDA 2B0314
Glutamate receptor ionotropic, NMDA 2C0314
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0001
Glutamate receptor ionotropic, NMDA 2D0314
Glutamate receptor ionotropic, NMDA 3B0314
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0314
NPYLR7B0011
Amine oxidase [flavin-containing] A 0011
Small conductance calcium-activated potassium channel protein 30112
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
thioredoxin reductase7007
pregnane X receptor3003
NFKB1 protein, partial2002
GALC protein3003
TDP1 protein6006
Thrombopoietin1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)5005
progesterone receptor5005
nonstructural protein 11001
glucocorticoid receptor [Homo sapiens]6006
estrogen-related nuclear receptor alpha9009
farnesoid X nuclear receptor4004
pregnane X nuclear receptor6006
G4004
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
IDH14004
thyroid stimulating hormone receptor2002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
chromobox protein homolog 15005
nuclear factor erythroid 2-related factor 2 isoform 23003
thyroid hormone receptor beta isoform 25005
mitogen-activated protein kinase 13003
serine/threonine-protein kinase mTOR isoform 11001
geminin6006
survival motor neuron protein isoform d4004
cytochrome P450 3A4 isoform 15005
Gamma-aminobutyric acid receptor subunit pi5229
Solute carrier family 22 member 20101
Solute carrier family 22 member 1 0202
Solute carrier family 22 member 30101
Solute carrier family 22 member 30101
Interferon beta6006
HLA class I histocompatibility antigen, B alpha chain 4004
Sex hormone-binding globulin0011
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0011
Androgen receptor0101
Gamma-aminobutyric acid receptor subunit beta-15229
Gamma-aminobutyric acid receptor subunit delta5229
Gamma-aminobutyric acid receptor subunit gamma-25229
Gamma-aminobutyric acid receptor subunit alpha-55229
Gamma-aminobutyric acid receptor subunit alpha-35229
Gamma-aminobutyric acid receptor subunit gamma-15229
Gamma-aminobutyric acid receptor subunit alpha-25229
Gamma-aminobutyric acid receptor subunit alpha-45229
Gamma-aminobutyric acid receptor subunit gamma-35229
Gamma-aminobutyric acid receptor subunit alpha-65229
C-8 sterol isomerase0101
Solute carrier organic anion transporter family member 1A10101
Nuclear receptor ROR-gamma3003
Gamma-aminobutyric acid receptor subunit alpha-15229
Gamma-aminobutyric acid receptor subunit beta-35229
Gamma-aminobutyric acid receptor subunit beta-25229
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0101
Solute carrier family 22 member 10202
GABA theta subunit5229
Inositol hexakisphosphate kinase 14004
Sigma non-opioid intracellular receptor 10101
Gamma-aminobutyric acid receptor subunit epsilon5229
Solute carrier family 22 member 20202
cytochrome P450 2C9, partial4004
Deoxycytidine kinase0001
Mas-related G-protein coupled receptor member X20011
Glycine receptor subunit alpha-10011
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 10101
Proton-coupled amino acid transporter 10202
Serine racemase0101
Olfactory receptor 51E20011
Sodium- and chloride-dependent glycine transporter 20101
Cellular tumor antigen p538008
Neuronal acetylcholine receptor subunit beta-20101
Neuronal acetylcholine receptor subunit alpha-70101
glp-1 receptor, partial5005
USP1 protein, partial6006
nuclear receptor subfamily 1, group I, member 34004
cytochrome P450 family 3 subfamily A polypeptide 45005
cytochrome P450 2D61001
aryl hydrocarbon receptor3003
cytochrome P450 2D6 isoform 11001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
importin subunit beta-1 isoform 11001
snurportin-11001
GTP-binding nuclear protein Ran isoform 11001
peripheral myelin protein 223003
histone acetyltransferase KAT2A isoform 13003
Cytochrome P450 1A10202
Cytochrome P450 1A20303
Cytochrome P450 3A40101
Cytochrome P450 2D60202
Cytochrome P450 2C9 0303
Cytochrome P450 2C190202
Cytochrome P450 1B10101
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 d2002
Glutathione reductase, mitochondrial0202
Cationic amino acid transporter 30101
Chain A, 2-oxoglutarate Oxygenase4004
peroxisome proliferator activated receptor gamma4004
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Spike glycoprotein2002
thioredoxin glutathione reductase2002
estrogen receptor 2 (ER beta)1001
vitamin D3 receptor isoform VDRA2002
nuclear receptor ROR-gamma isoform 11001
Glucocorticoid receptor0415
Glycine receptor subunit alpha-10404
Glycine receptor subunit beta0404
Glycine receptor subunit alpha-20404
Glycine receptor subunit alpha-30404
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
GLS protein1001
caspase 7, apoptosis-related cysteine protease1001
thyroid stimulating hormone receptor1001
caspase-31001
D(1A) dopamine receptor2002
DNA polymerase iota isoform a (long)2002
muscarinic acetylcholine receptor M12002
Fatty-acid amide hydrolase 10101
UDP-glucuronosyltransferase 1A90002
5-hydroxytryptamine receptor 40202
Aldo-keto reductase family 1 member B10303
Gamma-aminobutyric acid receptor subunit alpha-10002
Gamma-aminobutyric acid receptor subunit beta-10002
Gamma-aminobutyric acid receptor subunit alpha-20002
Gamma-aminobutyric acid receptor subunit alpha-30002
Polyunsaturated fatty acid lipoxygenase ALOX150101
Gamma-aminobutyric acid receptor subunit alpha-10213
Gamma-aminobutyric acid receptor subunit beta-10112
Gamma-aminobutyric acid receptor subunit gamma-20213
Gamma-aminobutyric acid receptor subunit alpha-40002
Gamma-aminobutyric acid receptor subunit gamma-20002
Prostaglandin G/H synthase 10303
Sodium-dependent noradrenaline transporter 0303
Sodium- and chloride-dependent GABA transporter 10202
5-hydroxytryptamine receptor 2C0202
Gamma-aminobutyric acid receptor subunit beta-30213
Gamma-aminobutyric acid receptor subunit alpha-50112
Sodium- and chloride-dependent GABA transporter 20202
Sodium- and chloride-dependent GABA transporter 30202
Gamma-aminobutyric acid receptor subunit alpha-30112
5-hydroxytryptamine receptor 2B0202
Gamma-aminobutyric acid receptor subunit alpha-20112
Gamma-aminobutyric acid receptor subunit beta-20112
Sodium- and chloride-dependent betaine transporter0202
Gamma-aminobutyric acid receptor subunit alpha-40112
Fatty-acid amide hydrolase 10202
Gamma-aminobutyric acid receptor subunit alpha-60112
UDP-glucuronosyltransferase 1A80001
Mu-type opioid receptor0101
Sigma non-opioid intracellular receptor 10213
Chain A, Cruzipain1001
flap endonuclease 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
cGMP-dependent 3',5'-cyclic phosphodiesterase0202
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A0101
Retina-specific copper amine oxidase0101
cGMP-specific 3',5'-cyclic phosphodiesterase0203
High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A0101
3',5'-cyclic-AMP phosphodiesterase 0101
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B0101
Renin0101
Tumor necrosis factor0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A 0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4D 0203
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0203
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0204
Adenosine receptor A10101
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0214
Adenosine receptor A2b0101
Adenosine receptor A2a0101
Sodium-dependent serotonin transporter0101
Delta-type opioid receptor0101
Delta-type opioid receptor0101
Bifunctional epoxide hydrolase 20101
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0203
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A0203
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B0101
cGMP-dependent 3',5'-cyclic phosphodiesterase0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B0203
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0213
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0214
cGMP-inhibited 3',5'-cyclic phosphodiesterase B0203
High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C0203
cGMP-inhibited 3',5'-cyclic phosphodiesterase A0203
cGMP-specific 3',5'-cyclic phosphodiesterase0101
Endothelin-1 receptor0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C0101
Phosphodiesterase 0101
Protein cereblon0202
Phosphodiesterase 0101
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A0101
cAMP-specific 3',5'-cyclic phosphodiesterase 7B0101
Phosphodiesterase 0101
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A0101
chaperonin-containing TCP-1 beta subunit homolog1001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
Solute carrier family 22 member 60101
Polyphenol oxidase 20102
Carbonic anhydrase 120101
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0202
Bile salt export pump0303
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30101
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Carbonic anhydrase 40101
Carbonic anhydrase 60101
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0101
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70101
5'-AMP-activated protein kinase subunit gamma-10001
5'-AMP-activated protein kinase catalytic subunit alpha-20001
Xanthine dehydrogenase/oxidase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10001
Carbonic anhydrase 90101
Carbonic anhydrase0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 80101
Solute carrier family 22 member 60101
Ubiquitin-like domain-containing CTD phosphatase 10101
Carbonic anhydrase 150101
Carbonic anhydrase 130101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140101
Carbonic anhydrase 5B, mitochondrial0101
5'-AMP-activated protein kinase subunit beta-10001
DNA polymerase kappa isoform 12002
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Neutral amino acid transporter A0101
Cholinesterase0101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Acetylcholinesterase0101
Chain X, Thyroid hormone receptor beta-10022
Chain X, Thyroid hormone receptor beta-10022
apical membrane antigen 1, AMA12002
EWS/FLI fusion protein1001
serine/threonine-protein kinase PLK11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
Solute carrier organic anion transporter family member 1A40103
Nuclear receptor subfamily 1 group I member 20011
Solute carrier organic anion transporter family member 1A50002
Rap guanine nucleotide exchange factor 31001
Transthyretin0103
Thyroid hormone receptor alpha0235
Thyroid hormone receptor beta0235
Proliferating cell nuclear antigen0202
Retinoic acid receptor RXR-alpha0022
UDP-glucuronosyltransferase 1A1 0101
Peroxisome proliferator-activated receptor gamma0044
Malate dehydrogenase, mitochondrial0101
Solute carrier organic anion transporter family member 1A20002
Solute carrier organic anion transporter family member 1A30002
Solute carrier organic anion transporter family member 4C10102
Monocarboxylate transporter 80001
Bile acid receptor0101
Solute carrier organic anion transporter family member 1C10001
Solute carrier organic anion transporter family member 1B10002
SMAD family member 21001
ATAD5 protein, partial2002
SMAD family member 31001
Smad31001
peripheral myelin protein 22 isoform 11001
procathepsin L isoform 1 preproprotein0101
muscleblind-like protein 1 isoform 12002
Cytochrome P450 2J20101
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Chain A, HDLP (HISTONE DEACETYLASE-LIKE PROTEIN)0101
Chain B, HDLP (HISTONE DEACETYLASE-LIKE PROTEIN)0101
Chain A, Histone deacetylase 7a0101
Chain A, Histone deacetylase 7a0101
Histone deacetylase 80101
PPM1D protein1001
Microtubule-associated protein tau1001
regulator of G-protein signaling 41001
Histone deacetylase 0101
Lysine-specific demethylase 4E0101
glucocerebrosidase2002
unnamed protein product0001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
Histone deacetylase 10202
Histone deacetylase 30406
5-hydroxytryptamine receptor 3A0101
Histone deacetylase 30101
Plasma kallikrein0101
Integrin beta-30101
Integrin alpha-IIb0101
Coagulation factor VII0101
Leukotriene A-4 hydrolase0101
Vitamin D3 receptor0101
Tissue factor0202
Adenosine receptor A10101
Delta-type opioid receptor0101
Histamine H2 receptor0101
Histone deacetylase 40418
Histone deacetylase 20101
Histone deacetylase 10428
Splicing factor 3B subunit 30101
Histone deacetylase 10101
Adenosine receptor A10101
Histone deacetylase 0101
Histone deacetylase 40101
Polyamine deacetylase HDAC100101
Histone deacetylase 30101
Histone deacetylase-like amidohydrolase0202
Histone deacetylase 70101
NAD-dependent protein deacetylase sirtuin-60112
Histone deacetylase 80101
Histone deacetylase 70406
Histone deacetylase 110101
Histone deacetylase 20417
HD2 type histone deacetylase HDA106 0202
Polyamine deacetylase HDAC100406
Histone deacetylase 11 0406
Histone deacetylase 90101
Histone deacetylase 70101
Histone deacetylase 6 0101
Histone deacetylase 40101
Histone deacetylase 80406
Histone deacetylase 60417
Histone deacetylase 90406
Histone deacetylase 50406
Histone deacetylase 0101
Nuclear receptor corepressor 20202
Histone deacetylase 60101
Histone deacetylase 50101
Histone deacetylase 0101
neuropeptide S receptor isoform A1001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit delta0101
Prothrombin0011
Androgen receptor0101
Thyroid hormone receptor beta0101
Adenosine receptor A10202
Gamma-aminobutyric acid receptor subunit epsilon0101
Solute carrier organic anion transporter family member 4C10001
Gamma-aminobutyric acid receptor subunit gamma-10101
Solute carrier organic anion transporter family member 4A10001
Gamma-aminobutyric acid receptor subunit gamma-30101
Solute carrier organic anion transporter family member 1C10101
Solute carrier organic anion transporter family member 1B30001
Gamma-aminobutyric acid receptor subunit theta0101
Luciferase1001
Cocaine esterase0101
Cytochrome P450 2A60101
Aldo-keto reductase family 1 member A10101
UDP-glucuronosyltransferase 2B70102
UDP-glucuronosyltransferase 1-60001
Liver carboxylesterase 10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member B70101
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]