Page last updated: 2024-09-27

Bartholin-Patau Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

Synonyms(10)

Synonym
Patau Syndrome
Trisomy 13
Trisomy 13 Syndromes
Complete Trisomy 13 Syndrome
Mosaic Trisomy 13 Syndrome
Chromosome 13 Duplication
Bartholin-Patau Syndrome
Trisomy 13 Syndrome
Chromosome 13 Trisomy Syndrome
Patau's Syndrome

Research Excerpts

Overview

ExcerptReference
"Trisomy 13 (Patau syndrome) is a kind of congenital chromosomal abnormality disease."( Liu, M; Wan, Q; Xiang, J; Xie, L, 2023)
"Trisomy 13 is one of the most common fetal life limiting diagnosis which is associated with ACC of membranous type scalp."( Abdulwahab, AH; Al Nefily, RM; Al-Shammari, AA; AlAnazi, RA; AlMatrifi, FR; Ammar, AS, 2023)

Context

ExcerptReference
"Trisomy 13 has high occurrence in fetuses or infants from the old aged pregnant women."( Liu, M; Wan, Q; Xiang, J; Xie, L, 2023)

Research

Studies (25)

TimeframeStudies, This Condition (%)All Conditions %
pre-19907 (28.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's11 (44.00)28.8240
2020's7 (28.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low20
cytosine0low10
hexachlorocyclohexane0low10
3,4-methylenedioxyamphetamine0low10
busulfan0low10
caffeine0low10
diazoxide0low20
valproic acid0low10
2-propanol0low10
apnea0low10
trichlormethiazide0low10
trifluoperazine0low10
estriol0low10
thymidine0low10
inositol 3-phosphate0low10
riboflavin0low10
sphingosine0low10
phenylephrine hydrochloride0low10
sybr green i0low10
exudates0low10
guanosine0low10
eye0low20

Protein Targets (411)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit3003
RAR-related orphan receptor gamma6006
GLI family zinc finger 36006
AR protein7007
aldehyde dehydrogenase 1 family, member A17007
retinoic acid nuclear receptor alpha variant 17007
retinoid X nuclear receptor alpha6006
estrogen nuclear receptor alpha110011
peroxisome proliferator-activated receptor delta3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
activating transcription factor 63003
v-jun sarcoma virus 17 oncogene homolog (avian)4004
Histone H2A.x1001
thyroid hormone receptor beta isoform a6006
heat shock protein beta-13003
nuclear factor erythroid 2-related factor 2 isoform 18008
lamin isoform A-delta109009
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24006
5-hydroxytryptamine receptor 2C0123
5-hydroxytryptamine receptor 2A0123
5-hydroxytryptamine receptor 1A0011
Sodium-dependent noradrenaline transporter 0202
Sodium-dependent dopamine transporter0011
5-hydroxytryptamine receptor 1B0011
5-hydroxytryptamine receptor 1D0011
5-hydroxytryptamine receptor 1F0011
5-hydroxytryptamine receptor 2B0123
5-hydroxytryptamine receptor 60011
Sodium-dependent serotonin transporter0415
Sodium-dependent serotonin transporter0112
5-hydroxytryptamine receptor 7 0011
5-hydroxytryptamine receptor 5A0011
5-hydroxytryptamine receptor 5B0011
5-hydroxytryptamine receptor 3A0011
Sodium-dependent dopamine transporter 0202
5-hydroxytryptamine receptor 4 0011
5-hydroxytryptamine receptor 3B0011
thioredoxin reductase3003
ATAD5 protein, partial5005
TDP1 protein8008
Microtubule-associated protein tau3003
estrogen-related nuclear receptor alpha6006
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 26006
Bloom syndrome protein isoform 14004
D(1A) dopamine receptor3003
neuropeptide S receptor isoform A1001
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Chain A, 2-oxoglutarate Oxygenase3003
15-lipoxygenase, partial3003
apical membrane antigen 1, AMA13003
thyroid stimulating hormone receptor4004
cytochrome P450 family 3 subfamily A polypeptide 43003
EWS/FLI fusion protein3003
glucocorticoid receptor [Homo sapiens]9009
pregnane X nuclear receptor4004
aryl hydrocarbon receptor2002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
thyroid hormone receptor beta isoform 24004
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
geminin100010
lethal factor (plasmid)4004
ATP-binding cassette sub-family C member 30303
Multidrug resistance-associated protein 40303
Bile salt export pump0808
Matrix metalloproteinase-90101
Disintegrin and metalloproteinase domain-containing protein 171001
Canalicular multispecific organic anion transporter 10303
Chain A, Glycogen Phosphorylase0101
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Chitinase0101
phosphopantetheinyl transferase3003
GLS protein2002
nuclear receptor subfamily 1, group I, member 33003
farnesoid X nuclear receptor4004
thyroid stimulating hormone receptor4004
atrial natriuretic peptide receptor 1 precursor1001
chromobox protein homolog 13003
DNA polymerase beta2002
nuclear receptor ROR-gamma isoform 12002
DNA polymerase kappa isoform 12002
muscarinic acetylcholine receptor M13003
Potassium channel subfamily K member 20011
Glycogen phosphorylase, muscle form0101
Renin0101
Carbonic anhydrase 10405
Carbonic anhydrase 20405
Cholinesterase0101
Glycogen phosphorylase, liver form0101
Glycogen phosphorylase, muscle form0101
Replicase polyprotein 1ab0101
Adenosine receptor A30101
Replicase polyprotein 1ab0101
Amine oxidase [flavin-containing] A0101
Acetylcholinesterase0202
Adenosine receptor A10203
Amine oxidase [flavin-containing] B0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0101
Adenosine receptor A30101
Adenosine receptor A2a0214
Adenosine receptor A2b0102
Adenosine receptor A2b0203
Adenosine receptor A10114
Adenosine receptor A2a0204
Vasopressin V2 receptor0001
Serine/threonine-protein kinase mTOR0101
Adenosine receptor A2a0101
Adenosine receptor A10101
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 0101
DNA-dependent protein kinase catalytic subunit0202
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B0101
Adenylate cyclase type 10001
Chitotriosidase-10101
Serine-protein kinase ATM0101
Serine/threonine-protein kinase ATR0101
Adenosine receptor A2b0102
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C0101
Palmitoleoyl-protein carboxylesterase NOTUM0123
Endochitinase B10101
Muscarinic acetylcholine receptor0001
Phosphodiesterase 0101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Guanine deaminase0101
ATP-dependent phosphofructokinase2002
IDH13003
Deoxycytidine kinase0001
Chain A, Beta-lactamase2002
Chain A, Ferritin light chain2002
regulator of G-protein signaling 43003
cytochrome P450 2D6 isoform 12002
importin subunit beta-1 isoform 11001
snurportin-11001
GTP-binding nuclear protein Ran isoform 11001
peripheral myelin protein 224004
survival motor neuron protein isoform d4004
cytochrome P450 3A4 isoform 14004
histone acetyltransferase KAT2A isoform 14004
Gamma-aminobutyric acid receptor subunit pi4004
Coagulation factor VII0101
Tissue factor0202
Gamma-aminobutyric acid receptor subunit beta-14004
Gamma-aminobutyric acid receptor subunit delta4004
Gamma-aminobutyric acid receptor subunit gamma-24004
Glutamate receptor 10002
Glutamate receptor 30002
Glutamate receptor 40002
Gamma-aminobutyric acid receptor subunit alpha-54004
Gamma-aminobutyric acid receptor subunit alpha-34004
Gamma-aminobutyric acid receptor subunit gamma-14004
Gamma-aminobutyric acid receptor subunit alpha-24004
Gamma-aminobutyric acid receptor subunit alpha-44004
Gamma-aminobutyric acid receptor subunit gamma-34004
Gamma-aminobutyric acid receptor subunit alpha-64004
Nicotinamide phosphoribosyltransferase0011
Gamma-aminobutyric acid receptor subunit alpha-14004
Gamma-aminobutyric acid receptor subunit beta-34004
Gamma-aminobutyric acid receptor subunit beta-24004
ATP-binding cassette sub-family C member 80112
ATP-sensitive inward rectifier potassium channel 110112
GABA theta subunit4004
Gamma-aminobutyric acid receptor subunit epsilon4004
estrogen receptor 2 (ER beta)3003
progesterone receptor3003
Estrogen receptor0202
Glucocorticoid receptor0202
Sex hormone-binding globulin0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Polyunsaturated fatty acid lipoxygenase ALOX150101
Androgen receptor0202
UDP-glucuronosyltransferase 2B70103
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Alpha-synuclein0101
Solute carrier organic anion transporter family member 1A10101
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20011
UDP-glucuronosyltransferase 1A100001
USP1 protein, partial3003
thioredoxin glutathione reductase1001
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Chain A, Membrane lipoprotein tmpC0011
Chain A, Membrane lipoprotein tmpC0011
Chain A, Membrane lipoprotein tmpC0011
Chain A, ATP-DEPENDENT DNA HELICASE Q12002
Purine nucleoside phosphorylase0001
Adenosylhomocysteinase0102
pregnane X receptor2002
SMAD family member 22002
SMAD family member 32002
caspase 7, apoptosis-related cysteine protease1001
peroxisome proliferator activated receptor gamma4004
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
caspase-31001
Cellular tumor antigen p534004
Spike glycoprotein3003
glp-1 receptor, partial2002
GALC protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
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
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, 6,7-Dimethyl-8-ribityllumazine Synthase0011
Chain B, 6,7-Dimethyl-8-ribityllumazine Synthase0011
Chain A, Breast cancer type 1 susceptibility protein1001
Chain H, Immunoglobulin Igg1 Heavy chain0011
Chain L, Immunoglobulin Igg1 Lambda Light Chain0011
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
Chain A, DODECIN0011
Chain A, DODECIN0011
Chain C, DODECIN0011
Chain E, DODECIN0011
acetylcholinesterase1001
NPYLR7B0011
cytochrome P450 2D61001
thyrotropin-releasing hormone receptor1001
tumor necrosis factor1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
mitogen-activated protein kinase 13003
nuclear factor NF-kappa-B p105 subunit isoform 11001
caspase-1 isoform alpha precursor1001
Riboflavin-binding protein0112
60 kDa chaperonin0101
60 kDa heat shock protein, mitochondrial0101
Caspase-71001
10 kDa heat shock protein, mitochondrial0101
Inositol monophosphatase 12002
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
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 120203
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0202
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30202
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
Carbonic anhydrase 40203
Prostaglandin G/H synthase 10101
Carbonic anhydrase 60203
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0203
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70203
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 90203
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 130203
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140203
Carbonic anhydrase 5B, mitochondrial0203
5'-AMP-activated protein kinase subunit beta-10001
Chain A, Cruzipain1001
Luciferase2002
acid sphingomyelinase1001
endonuclease IV1001
glucocerebrosidase2002
alpha-galactosidase1001
vitamin D3 receptor isoform VDRA2002
potassium voltage-gated channel subfamily H member 2 isoform d2002
C-X-C chemokine receptor type 5 isoform 10101
ubiquitin-conjugating enzyme E2 N0101
C-C chemokine receptor type 60101
apelin receptor0101
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)1001
bcl-2-related protein A10101
streptokinase A precursor0011
Endoglycoceramidase II 0001
Protein kinase C alpha type0202
Estrogen receptor0011
Protein kinase C delta type0202
Protein kinase C epsilon type0202
Protein kinase C zeta type0202
cAMP-dependent protein kinase catalytic subunit alpha 0101
Protein kinase C gamma type0202
Protein kinase C beta type0202
Estrogen receptor beta0011
Protein kinase C eta type0202
Sphingosine kinase 20101
Sphingosine kinase 10101
Protein kinase C theta type0202
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Thymidine kinase 0102
Thymidine kinase, cytosolic0204
Thymidine kinase0102
Thymidylate synthase0001
Thymidine phosphorylase0001
Polyunsaturated fatty acid 5-lipoxygenase0101
Glucose-6-phosphate 1-dehydrogenase0101
Thymidine phosphorylase0001
Thymidylate kinase0101
Thymidine kinase, cytosolic 0002
Thymidine kinase0001
Thymidylate kinase0101
Thymidine kinase 0102
Sterol O-acyltransferase 10101
Thymidine kinase0001
Thymidine kinase0001
G1001
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
TAR DNA-binding protein 431001
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
Genome polyprotein 0101
NFKB1 protein, partial1001
Thrombopoietin1001
Smad31001
NADPH oxidase 10101
67.9K protein1001
Snq2p0001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
NPC intracellular cholesterol transporter 1 precursor1001
cellular tumor antigen p53 isoform a1001
cytochrome P450 2C19 precursor1001
atrial natriuretic peptide receptor 2 precursor1001
ras-related protein Rab-9A1001
serine/threonine-protein kinase mTOR isoform 11001
M-phase phosphoprotein 81001
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
DNA repair protein RAD52 homolog isoform a0001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Ubiquitin carboxyl-terminal hydrolase 10101
Lysozyme C-10101
Glycoprotein hormones alpha chain1001
Albumin0011
Sarcoplasmic/endoplasmic reticulum calcium ATPase 10101
Integrin beta-31001
Beta-glucuronidase0101
ATP-dependent translocase ABCB10202
Integrin alpha-IIb1001
Calmodulin-10011
Angiotensin-converting enzyme0202
Alpha-1B adrenergic receptor0101
Alpha-1D adrenergic receptor0101
Trypanothione reductase0202
C-8 sterol isomerase0101
Pleiotropic ABC efflux transporter of multiple drugs0102
Alpha-1A adrenergic receptor0101
Histamine H2 receptor1001
D(2) dopamine receptor0112
Calmodulin 0011
Guanine nucleotide-binding protein G1001
Potassium voltage-gated channel subfamily H member 20202
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0101
Nuclear receptor subfamily 3 group C member 3 0202
Calcium-dependent protein kinase 40101
WD repeat-containing protein 480101
Ataxin-22002
Sigma non-opioid intracellular receptor 10101
Emopamil-binding protein-like0101
Cocaine esterase0101
Histone deacetylase 30202
UDP-glucuronosyltransferase 1A90001
Aldo-keto reductase family 1 member B10101
Cytochrome P450 2A60101
Aldo-keto reductase family 1 member A10101
UDP-glucuronosyltransferase 1-60001
Liver carboxylesterase 10101
Nuclear receptor ROR-gamma1001
Aldo-keto reductase family 1 member A10101
Histone deacetylase 40202
Histone deacetylase 10202
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member B70101
Sigma non-opioid intracellular receptor 10101
Histone deacetylase 70202
Histone deacetylase 20202
Polyamine deacetylase HDAC100202
Histone deacetylase 11 0202
ATPase family AAA domain-containing protein 51001
Histone deacetylase 80202
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
Histone deacetylase 60202
Histone deacetylase 90202
Histone deacetylase 50202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]