Complete Trisomy 18 Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.

Synonyms(6)

Synonym
Edwards Syndrome
Trisomy E Syndrome
Complete Trisomy 18 Syndrome
Mosaic Trisomy 18 Syndrome
Trisomy 18
Trisomy 18 Syndrome

Research Excerpts

Context

Excerpt	Reference
"Many children with trisomy 18 have apneas from the neonatal period."	( Asada, H; Fukasawa, T; Hattori, T; Kato, Y; Kubota, T; Matsusawa, K; Negoro, T; Tanaka, M, 2015)

Research

Studies (19)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	1 (5.26)	23.3326
1990's	0 (0.00)	12.5806
2000's	0 (0.00)	18.1394
2010's	14 (73.68)	28.8240
2020's	4 (21.05)	9.53

Drug	Relationship Strength	Studies
cytosine	low	2
caffeine	low	2
valproic acid	low	1
apnea	low	4
procarbazine	low	1
prednisolone	low	1
estriol	low	4
prednisone	low	1
pyrroles	low	1
atorvastatin	low	1
resorufin	low	1
1,1'-oxalyldiimidazole	low	1
amplex red	low	1
sphingosine	low	1
alprostadil	low	1
deoxyribose	low	1
interleukin-8	low	1
lactoferrin	low	1
guanine	low	1
guanosine	low	1

Protein Targets (247)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
TDP1 protein	5	0	0	5
AR protein	6	0	0	6
glucocorticoid receptor [Homo sapiens]	7	0	0	7
estrogen nuclear receptor alpha	7	0	0	7
peroxisome proliferator activated receptor gamma	3	0	0	3
ATP-binding cassette sub-family C member 3	0	3	0	3
Multidrug resistance-associated protein 4	0	3	0	4
Bile salt export pump	0	5	0	5
Cellular tumor antigen p53	5	0	0	5
Thromboxane-A synthase	0	1	0	1
Prostaglandin E2 receptor EP3 subtype	0	1	0	1
Prostaglandin E2 receptor EP4 subtype	0	1	1	2
Prostaglandin E2 receptor EP1 subtype	0	1	0	1
Prostacyclin receptor	0	1	1	2
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Solute carrier organic anion transporter family member 2A1	0	0	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Prostaglandin E2 receptor EP2 subtype	0	1	1	2
Canalicular multispecific organic anion transporter 1	0	3	0	3
Solute carrier organic anion transporter family member 2A1	0	0	0	1
Solute carrier organic anion transporter family member 2B1	0	1	0	1
Solute carrier organic anion transporter family member 3A1	0	0	0	1
thioredoxin reductase	1	0	0	1
ATAD5 protein, partial	2	0	0	2
Microtubule-associated protein tau	2	0	0	2
estrogen-related nuclear receptor alpha	7	0	0	7
arylsulfatase A	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	2	0	0	2
Bloom syndrome protein isoform 1	2	0	0	2
D(1A) dopamine receptor	1	0	0	1
lamin isoform A-delta10	3	0	0	3
neuropeptide S receptor isoform A	1	0	0	1
Chain A, Cruzipain	2	0	0	2
RAR-related orphan receptor gamma	4	0	0	4
SMAD family member 2	1	0	0	1
SMAD family member 3	1	0	0	1
GLI family zinc finger 3	6	0	0	6
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	5	0	0	5
retinoic acid nuclear receptor alpha variant 1	6	0	0	6
retinoid X nuclear receptor alpha	2	0	0	2
pregnane X nuclear receptor	5	0	0	5
peroxisome proliferator-activated receptor delta	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	2	0	0	2
caspase-3	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	4	0	0	4
Caspase-7	1	0	0	1
vitamin D3 receptor isoform VDRA	3	0	0	3
thyroid hormone receptor beta isoform a	4	0	0	4
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	4	0	0	4
nuclear factor erythroid 2-related factor 2 isoform 1	4	0	0	4
geminin	5	0	0	5
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
ATP-dependent translocase ABCB1	0	1	0	1
Insulin receptor	0	1	0	1
Glutamate receptor 2	4	0	0	4
Dipeptidyl peptidase 4	0	1	0	1
Prostaglandin G/H synthase 2	0	2	0	2
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	0	0	1
Histone deacetylase 6	0	3	0	3
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	2	0	2
Solute carrier organic anion transporter family member 1B1	0	1	0	2
Chain A, Glycogen Phosphorylase	0	1	0	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Chain A, glycogen phosphorylase, liver form	0	0	1	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Chain A, Chitinase	0	1	0	1
phosphopantetheinyl transferase	2	0	0	2
GLS protein	2	0	0	2
farnesoid X nuclear receptor	2	0	0	2
thyroid stimulating hormone receptor	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	3	0	0	3
atrial natriuretic peptide receptor 1 precursor	1	0	0	1
chromobox protein homolog 1	1	0	0	1
DNA polymerase beta	2	0	0	2
nuclear receptor ROR-gamma isoform 1	2	0	0	2
DNA polymerase kappa isoform 1	1	0	0	1
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	1	0	0	1
Potassium channel subfamily K member 2	0	0	1	1
Glycogen phosphorylase, muscle form	0	1	0	1
Renin	0	1	0	1
Carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 2	0	1	0	1
Cholinesterase	0	1	0	1
Glycogen phosphorylase, liver form	0	1	0	1
Glycogen phosphorylase, muscle form	0	1	0	1
Replicase polyprotein 1ab	0	1	0	1
Adenosine receptor A3	0	1	0	1
Replicase polyprotein 1ab	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
Acetylcholinesterase	0	1	0	1
Adenosine receptor A1	0	2	0	3
Amine oxidase [flavin-containing] B	0	2	0	2
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	1	0	1
Adenosine receptor A3	0	1	0	1
Adenosine receptor A2a	0	2	1	4
Adenosine receptor A2b	0	1	0	2
Adenosine receptor A2b	0	2	0	3
Adenosine receptor A1	0	1	1	4
Adenosine receptor A2a	0	2	0	4
Vasopressin V2 receptor	0	0	0	1
Serine/threonine-protein kinase mTOR	0	1	0	1
Adenosine receptor A2a	0	1	0	1
Adenosine receptor A1	0	1	0	1
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	0	1	0	1
DNA-dependent protein kinase catalytic subunit	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	1	0	1
Adenylate cyclase type 1	0	0	0	1
Chitotriosidase-1	0	1	0	1
Serine-protein kinase ATM	0	1	0	1
Serine/threonine-protein kinase ATR	0	1	0	1
Adenosine receptor A2b	0	1	0	2
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	0	1	0	1
Palmitoleoyl-protein carboxylesterase NOTUM	0	1	2	3
Endochitinase B1	0	1	0	1
Muscarinic acetylcholine receptor	0	0	0	1
Phosphodiesterase	0	1	0	1
Guanine deaminase	0	1	0	2
ATP-dependent phosphofructokinase	1	0	0	1
IDH1	2	0	0	2
Deoxycytidine kinase	0	0	0	1
progesterone receptor	3	0	0	3
Estrogen receptor	0	4	0	4
Glucocorticoid receptor	0	6	2	13
Sex hormone-binding globulin	0	0	1	1
Glycine receptor subunit alpha-1	0	6	0	6
Corticosteroid-binding globulin	0	2	0	2
Polyunsaturated fatty acid lipoxygenase ALOX15	0	1	0	1
Androgen receptor	0	2	0	2
UDP-glucuronosyltransferase 2B7	0	1	0	3
Glycine receptor subunit beta	0	6	0	6
Glycine receptor subunit alpha-2	0	6	0	6
Glycine receptor subunit alpha-3	0	6	0	6
Sodium-dependent serotonin transporter	0	2	0	2
Alpha-synuclein	0	1	0	1
Solute carrier organic anion transporter family member 1A1	0	1	0	1
Lanosterol 14-alpha demethylase	0	0	1	1
Olfactory receptor 51E2	0	0	1	1
UDP-glucuronosyltransferase 1A10	0	0	0	1
Purine nucleoside phosphorylase	0	2	0	3
Hypoxanthine-guanine phosphoribosyltransferase	0	0	0	1
Ricin	0	1	0	1
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase	0	0	1	1
Purine nucleoside phosphorylase	0	0	1	2
Shiga toxin subunit A	0	1	0	1
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Adenosylhomocysteinase	0	1	0	2
luciferase	0	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
aryl hydrocarbon receptor	1	0	0	1
nuclear receptor subfamily 1, group I, member 2	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	2	0	0	2
Interferon beta	1	0	0	1
Fatty acid-binding protein, liver	0	1	0	1
Progesterone receptor	0	2	0	3
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Mineralocorticoid receptor	0	2	1	3
Androgen receptor	0	2	0	2
Cytochrome P450 2C9	0	1	0	1
Glutamine synthetase	0	0	1	1
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
Ataxin-2	2	0	0	2
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	2	0	0	2
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
pregnane X receptor	2	0	0	2
thioredoxin glutathione reductase	1	0	0	1
aldehyde dehydrogenase 1 family, member A1	2	0	0	2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
Nuclear receptor ROR-gamma	2	0	0	2
acetylcholinesterase	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
USP1 protein, partial	2	0	0	2
EWS/FLI fusion protein	1	0	0	1
cytochrome P450 2C19 precursor	1	0	0	1
Chain A, Ferritin light chain	1	0	0	1
Luciferase	2	0	0	2
acid sphingomyelinase	1	0	0	1
endonuclease IV	1	0	0	1
apical membrane antigen 1, AMA1	1	0	0	1
glucocerebrosidase	1	0	0	1
alpha-galactosidase	1	0	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	2	0	0	2
C-X-C chemokine receptor type 5 isoform 1	0	1	0	1
mitogen-activated protein kinase 1	1	0	0	1
ubiquitin-conjugating enzyme E2 N	0	1	0	1
C-C chemokine receptor type 6	0	1	0	1
apelin receptor	0	1	0	1
DNA polymerase eta isoform 1	1	0	0	1
DNA polymerase iota isoform a (long)	1	0	0	1
bcl-2-related protein A1	0	1	0	1
streptokinase A precursor	0	0	1	1
Endoglycoceramidase II	0	0	0	1
Protein kinase C alpha type	0	1	0	1
Estrogen receptor	0	0	1	1
Protein kinase C delta type	0	1	0	1
Protein kinase C epsilon type	0	1	0	1
Protein kinase C zeta type	0	1	0	1
cAMP-dependent protein kinase catalytic subunit alpha	0	1	0	1
Protein kinase C gamma type	0	1	0	1
Protein kinase C beta type	0	1	0	1
Estrogen receptor beta	0	0	1	1
Protein kinase C eta type	0	1	0	1
Sphingosine kinase 2	0	1	0	1
Sphingosine kinase 1	0	1	0	1
Protein kinase C theta type	0	1	0	1
Cocaine esterase	0	1	0	1
Histone deacetylase 3	0	2	0	2
UDP-glucuronosyltransferase 1A9	0	0	0	1
Bile salt export pump	0	1	0	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Cytochrome P450 2A6	0	1	0	1
Tissue factor	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
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]

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