Page last updated: 2024-09-28

Congenital Disorders

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.

Synonyms(4)

Synonym
Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Disorders
Disorders, Congenital

Research

Studies (184)

TimeframeStudies, This Condition (%)All Conditions %
pre-1990105 (57.07)23.3326
1990's78 (42.39)12.5806
2000's0 (0.00)18.1394
2010's0 (0.00)28.8240
2020's1 (0.54)9.53
DrugIndicatedRelationship StrengthStudiesTrials
3,4-methylenedioxyamphetamine0low10
phenytoin0low10
gossypol0low10
medroxyprogesterone acetate0low10
tryptophan0low10
methylprednisolone0low10
cetylpyridinium chloride anhydrous0low340
4-methoxyamphetamine0low240
mifepristone0low30
retinol0low10
diethylstilbestrol0low10
amygdalin0low20
enclomiphene0low30
freedom0low670
lead0low10
heroin0low10
peramivir0low10
enerbol0low530
rome0low10
folic acid0low10
eye0low20

Protein Targets (449)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
5-hydroxytryptamine receptor 2C0224
5-hydroxytryptamine receptor 2A0224
5-hydroxytryptamine receptor 1A0325
Sodium-dependent noradrenaline transporter 0606
Sodium-dependent dopamine transporter0011
5-hydroxytryptamine receptor 1B0224
5-hydroxytryptamine receptor 1D0123
5-hydroxytryptamine receptor 1F0123
5-hydroxytryptamine receptor 2B0224
5-hydroxytryptamine receptor 60022
Sodium-dependent serotonin transporter0628
Sodium-dependent serotonin transporter0213
5-hydroxytryptamine receptor 7 0022
5-hydroxytryptamine receptor 5A0022
5-hydroxytryptamine receptor 5B0022
5-hydroxytryptamine receptor 3A0022
Sodium-dependent dopamine transporter 0606
5-hydroxytryptamine receptor 4 0022
5-hydroxytryptamine receptor 3B0022
Chain A, Ferritin light chain4004
acetylcholinesterase5005
hypoxia-inducible factor 1 alpha subunit4004
RAR-related orphan receptor gamma6006
SMAD family member 25005
USP1 protein, partial6006
SMAD family member 35005
TDP1 protein8008
GLI family zinc finger 3100010
Microtubule-associated protein tau6006
AR protein9009
caspase 7, apoptosis-related cysteine protease2002
estrogen receptor 2 (ER beta)5005
nuclear receptor subfamily 1, group I, member 37007
progesterone receptor6006
glucocorticoid receptor [Homo sapiens]8008
retinoic acid nuclear receptor alpha variant 18008
retinoid X nuclear receptor alpha8008
estrogen-related nuclear receptor alpha100010
farnesoid X nuclear receptor5005
estrogen nuclear receptor alpha9009
67.9K protein3003
peroxisome proliferator-activated receptor delta6006
peroxisome proliferator activated receptor gamma7007
vitamin D (1,25- dihydroxyvitamin D3) receptor8008
caspase-32002
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a8008
activating transcription factor 65005
thyrotropin-releasing hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)4004
vitamin D3 receptor isoform VDRA5005
thyroid hormone receptor beta isoform 26006
heat shock protein beta-15005
mitogen-activated protein kinase 14004
nuclear factor erythroid 2-related factor 2 isoform 17007
nuclear receptor ROR-gamma isoform 17007
survival motor neuron protein isoform d4004
Voltage-dependent calcium channel gamma-2 subunit4004
Cellular tumor antigen p538008
Glutamate receptor 24004
Caspase-20011
Inositol monophosphatase 14004
ATPase family AAA domain-containing protein 54004
Ataxin-24004
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, JmjC domain-containing histone demethylation protein 3A3003
Luciferase2002
interleukin 83003
glp-1 receptor, partial4004
15-lipoxygenase, partial3003
ATAD5 protein, partial4004
GLS protein5005
Smad33003
aldehyde dehydrogenase 1 family, member A16006
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)4004
thyroid stimulating hormone receptor4004
regulator of G-protein signaling 44004
cytochrome P450 family 3 subfamily A polypeptide 44004
pregnane X nuclear receptor6006
G6006
cytochrome P450 2D63003
IDH14004
thyroid stimulating hormone receptor4004
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
Histone H2A.x3003
cellular tumor antigen p53 isoform a2002
thyroid hormone receptor beta isoform a3003
potassium voltage-gated channel subfamily H member 2 isoform d2002
ubiquitin carboxyl-terminal hydrolase 2 isoform a3003
serine/threonine-protein kinase PLK11001
histone-lysine N-methyltransferase 2A isoform 2 precursor3003
geminin8008
peripheral myelin protein 223003
cytochrome P450 3A4 isoform 14004
high affinity choline transporter 1 isoform a0101
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
lethal factor (plasmid)2002
lamin isoform A-delta106006
neuropeptide S receptor isoform A4004
Gamma-aminobutyric acid receptor subunit pi4105
Polyunsaturated fatty acid lipoxygenase ALOX15B2002
5-hydroxytryptamine receptor 40404
Nuclear receptor subfamily 1 group I member 20112
Carbonic anhydrase 10102
Carbonic anhydrase 20102
Interferon beta6006
HLA class I histocompatibility antigen, B alpha chain 6006
Estrogen receptor17311
Glucocorticoid receptor18314
Sarcoplasmic/endoplasmic reticulum calcium ATPase 10101
Integrin beta-32002
Tyrosine-protein kinase Fyn0303
Glycine receptor subunit alpha-10808
Aldo-keto reductase family 1 member B10404
Integrin alpha-IIb2002
Beta-1 adrenergic receptor0202
Alpha-2A adrenergic receptor0404
Polyunsaturated fatty acid 5-lipoxygenase0101
Adenosine receptor A30404
Muscarinic acetylcholine receptor M10404
Polyunsaturated fatty acid lipoxygenase ALOX150202
D(2) dopamine receptor0202
Androgen receptor0707
Gamma-aminobutyric acid receptor subunit beta-14105
Alpha-1B adrenergic receptor0404
Alpha-2B adrenergic receptor0606
Gamma-aminobutyric acid receptor subunit delta4105
Gamma-aminobutyric acid receptor subunit gamma-24105
Alpha-2C adrenergic receptor0404
Gamma-aminobutyric acid receptor subunit alpha-54105
Gamma-aminobutyric acid receptor subunit alpha-34105
Muscarinic acetylcholine receptor M30404
Glycine receptor subunit beta0808
Substance-K receptor0404
D(1A) dopamine receptor0202
Acetylcholinesterase0101
Glycine receptor subunit alpha-20808
Prostaglandin G/H synthase 10303
Gamma-aminobutyric acid receptor subunit gamma-14105
Gamma-aminobutyric acid receptor subunit alpha-24105
Glycine receptor subunit alpha-30808
Thromboxane-A synthase 0101
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2A0404
5-hydroxytryptamine receptor 2C0404
Gamma-aminobutyric acid receptor subunit alpha-44105
Gamma-aminobutyric acid receptor subunit gamma-34105
Adenosine receptor A2a0202
Gamma-aminobutyric acid receptor subunit alpha-64105
Adenosine receptor A10202
Mu-type opioid receptor0404
D(3) dopamine receptor0404
Vasopressin V1a receptor0202
Alpha-synuclein5106
Delta-type opioid receptor0202
Kappa-type opioid receptor0404
5-hydroxytryptamine receptor 2B0404
Alpha-1A adrenergic receptor0404
Histamine H2 receptor3003
5-hydroxytryptamine receptor 60404
Nuclear receptor ROR-gamma3003
Spike glycoprotein2002
Estrogen-related receptor gamma0011
Gamma-aminobutyric acid receptor subunit alpha-14105
Gamma-aminobutyric acid receptor subunit beta-34105
Gamma-aminobutyric acid receptor subunit beta-24105
Disintegrin and metalloproteinase domain-containing protein 173003
Aldehyde oxidase0101
TAR DNA-binding protein 431001
UDP-glucose 4-epimerase0101
Mitogen-activated protein kinase 140202
GABA theta subunit4105
Inositol hexakisphosphate kinase 16006
Estrogen receptor beta1539
Gamma-aminobutyric acid receptor subunit epsilon4105
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Cysteinyl leukotriene receptor 10202
cytochrome P450 2C9, partial6006
Chain A, Beta-lactamase3003
chaperonin-containing TCP-1 beta subunit homolog1001
phosphopantetheinyl transferase4004
bromodomain adjacent to zinc finger domain 2B5005
ubiquitin-conjugating enzyme E2 N0101
protein AF-9 isoform a0001
Epidermal growth factor receptor0101
Receptor tyrosine-protein kinase erbB-20101
Muscarinic acetylcholine receptor M20202
Muscarinic acetylcholine receptor M40202
Muscarinic acetylcholine receptor M50202
Cytochrome P450 2D60101
Beta-3 adrenergic receptor0202
C-8 sterol isomerase0101
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0101
Sigma non-opioid intracellular receptor 10404
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase3003
Chain A, 2-oxoglutarate Oxygenase3003
acid sphingomyelinase1001
glucocerebrosidase1001
alpha-galactosidase1001
lysosomal alpha-glucosidase preproprotein2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
nuclear factor erythroid 2-related factor 2 isoform 24004
DNA polymerase beta2002
Multidrug resistance-associated protein 40304
Bile salt export pump0404
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10202
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Cruzipain4004
thioredoxin reductase5005
pregnane X receptor4004
Mcl-10101
Fumarate hydratase2002
PPM1D protein2002
Estrogen receptor 10101
thioredoxin glutathione reductase2002
DNA polymerase III, partial1001
PINK12002
EWS/FLI fusion protein2002
polyprotein2002
Parkin2002
arylsulfatase A3003
euchromatic histone-lysine N-methyltransferase 25005
Caspase-71001
Bloom syndrome protein isoform 13003
cytochrome P450 2D6 isoform 11001
galactokinase1001
hexokinase-4 isoform 11001
NPC intracellular cholesterol transporter 1 precursor1001
polyunsaturated fatty acid lipoxygenase ALOX121001
cytochrome P450 2C19 precursor1001
cytochrome P450 2C9 precursor2002
D(1A) dopamine receptor2002
atrial natriuretic peptide receptor 1 precursor2002
chromobox protein homolog 13003
caspase-31001
glucokinase regulatory protein1001
huntingtin isoform 22002
atrial natriuretic peptide receptor 2 precursor2002
nuclear factor NF-kappa-B p105 subunit isoform 11001
flap endonuclease 13003
ras-related protein Rab-9A1001
eukaryotic translation initiation factor 4 gamma 1 isoform 40101
serine/threonine-protein kinase mTOR isoform 12002
tyrosine-protein kinase Yes1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase iota isoform a (long)5005
eukaryotic translation initiation factor 4E isoform 10101
DNA polymerase kappa isoform 11001
M-phase phosphoprotein 83003
muscleblind-like protein 1 isoform 12002
histone acetyltransferase KAT2A isoform 12002
caspase-1 isoform alpha precursor1001
4-(cytidine 5'-phospho)-2-C-methyl-D-erithritol kinase1001
Prolyl endopeptidase0101
L-lactate dehydrogenase A chain0101
Malate dehydrogenase, mitochondrial0101
Beta-lactamase0101
L-lactate dehydrogenase B chain0101
Muscarinic acetylcholine receptor M10101
Muscarinic acetylcholine receptor M30101
Muscarinic acetylcholine receptor M40101
Muscarinic acetylcholine receptor M50101
Apoptosis regulator Bcl-20213
Muscarinic acetylcholine receptor M20101
Solute carrier family 2, facilitated glucose transporter member 10101
Malate dehydrogenase, cytoplasmic0101
L-lactate dehydrogenase B chain0101
DNA-3-methyladenine glycosylase0101
Caspase-11102
DNA repair protein RAD52 homolog0101
D(1A) dopamine receptor2002
5-hydroxytryptamine receptor 70101
Kinesin-like protein KIF110101
Caspase-71001
BH3-interacting domain death agonist0101
Type 1 InsP3 receptor isoform S2 1001
E3 ubiquitin-protein ligase Mdm20101
Bcl-2-like protein 10213
Induced myeloid leukemia cell differentiation protein Mcl-10213
Peroxisome proliferator-activated receptor alpha1001
L-lactate dehydrogenase0101
Aspartyl/asparaginyl beta-hydroxylase0101
L-lactate dehydrogenase0101
L-lactate dehydrogenase B chain0101
L-lactate dehydrogenase0101
Bcl-2-like protein 20101
Bcl2-associated agonist of cell death 0101
Inosine-5'-monophosphate dehydrogenase 0101
Solute carrier organic anion transporter family member 1B30202
Histamine H3 receptor1001
Solute carrier organic anion transporter family member 1B10202
phosphoglycerate kinase1001
2,3-bisphosphoglycerate-independent phosphoglycerate mutase1001
ATP-dependent phosphofructokinase4004
Liver carboxylesterase 10001
nonstructural protein 13003
nuclear receptor subfamily 1, group I, member 23003
transcriptional regulator ERG isoform 32002
ATP-binding cassette sub-family C member 30303
Sex hormone-binding globulin0011
Progesterone receptor0428
Mineralocorticoid receptor 1316
Androgen receptor1438
Androgen receptor0011
Histamine H2 receptor0202
Aldo-keto reductase family 1 member C30101
Aldo-keto reductase family 1 member C2 0101
Guanine nucleotide-binding protein G2002
Aldo-keto reductase family 1 member C10101
Canalicular multispecific organic anion transporter 10303
Nuclear receptor subfamily 1 group I member 20011
Chain A, PROGESTERONE RECEPTOR0101
Glucocorticoid receptor 0101
dopamine D1 receptor1001
apical membrane antigen 1, AMA11001
hypothetical protein, conserved1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
Prostaglandin G/H synthase 10101
Tegument protein VP160011
Glucocorticoid receptor0113
Glucocorticoid receptor0101
Cytochrome P450 3A40202
Coagulation factor VII0101
Cytochrome P450 2C80101
Thyroid hormone receptor alpha0101
Thyroid hormone receptor beta0101
Cytochrome P450 2C9 0202
Steroid 17-alpha-hydroxylase/17,20 lyase 0101
Tissue factor0101
ATP-dependent translocase ABCB10011
Adenosine receptor A10011
Adenosine receptor A2a0011
Substance-P receptor0202
Progesterone receptor0011
Glucocorticoid receptor0101
Gamma-aminobutyric acid 0101
endonuclease IV1001
peripheral myelin protein 22 isoform 12002
parathyroid hormone/parathyroid hormone-related peptide receptor precursor2002
muscarinic acetylcholine receptor M11001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit delta0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Dihydrofolate reductase 0101
Sodium channel protein type 2 subunit alpha0101
Gamma-aminobutyric acid receptor subunit alpha-10101
Aldo-keto reductase family 1 member B10101
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit alpha-30101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0102
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit epsilon0101
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Potassium voltage-gated channel subfamily H member 20101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit pi0101
Sodium channel protein type 2 subunit alpha0101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit theta0101
Sodium channel protein type 3 subunit alpha0101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit theta0101
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
Retinol-binding protein 40011
Beta-lactoglobulin0011
Amyloid-beta precursor protein0101
Sphingosine kinase 20202
Sphingosine kinase 10101
Chain A, Trp Rna-binding Attenuation Protein0011
Chain K, Trp Rna-binding Attenuation Protein0011
Chain B, tryptophanyl-tRNA synthetase0011
Chain C, Tryptophanyl-tRNA synthetase II0011
aryl hydrocarbon receptor1001
Carbonic anhydrase 120001
Dihydrofolate reductase0202
Plasma kallikrein0001
Myeloperoxidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Carbonic anhydrase 30001
Stromelysin-10101
Intestinal-type alkaline phosphatase0101
Indoleamine 2,3-dioxygenase 10102
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Carbonic anhydrase 5A, mitochondrial0001
Glutamate receptor ionotropic, NMDA 1 0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Tryptophan 2,3-dioxygenase0102
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10101
SLC16A10 protein0001
Uracil nucleotide/cysteinyl leukotriene receptor0101
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase-like protein, putative0001
Tryprostatin B synthase0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Carbonic anhydrase 0001
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Glutamate receptor ionotropic, NMDA 3A0001
Carbonic anhydrase 140001
Phospholipase A-2-activating protein0101
Carbonic anhydrase 5B, mitochondrial0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]