Page last updated: 2024-09-27

22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Synonyms(1)

Synonym
22q11 Deletion Syndrome

Research

Studies (23)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's20 (86.96)28.8240
2020's3 (13.04)9.53
DrugIndicatedRelationship StrengthStudiesTrials
citric acid, anhydrous0low10
vanilmandelic acid0low10
homovanillic acid0low10
haloperidol0low10
glutamine0low10
levodopa0low10
methionine0low30
valine0low30
trolamine salicylate0low10
glutamic acid0low10
3-iodo-2-hydroxy-6-methoxy-n-((1-ethyl-2-pyrrolidinyl)methyl)benzamide0low10
proline0low30
ro13-99040low10
epidermal growth factor0low10
transforming growth factor beta0low10
clozapine0low10
clozapine n-oxide0low10

Protein Targets (519)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
D(2) dopamine receptor05111
D(4) dopamine receptor05110
D(3) dopamine receptor05110
D(2) dopamine receptor0606
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, JmjC domain-containing histone demethylation protein 3A3003
GLI family zinc finger 34004
aldehyde dehydrogenase 1 family, member A13003
nuclear receptor subfamily 1, group I, member 34004
glucocorticoid receptor [Homo sapiens]5005
farnesoid X nuclear receptor3003
estrogen nuclear receptor alpha6006
peroxisome proliferator activated receptor gamma2002
hepatocyte nuclear factor 4-alpha isoform 20101
perilipin-50101
thyroid hormone receptor beta isoform a2002
perilipin-10101
nuclear factor erythroid 2-related factor 2 isoform 14004
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a0101
Beta-lactamase0101
Proto-oncogene tyrosine-protein kinase Src0101
3-dehydroquinate dehydratase0011
ATP-citrate synthase 0102
Ribonuclease T0001
Cell death-related nuclease 40001
3-dehydroquinate dehydratase0011
Prolyl 4-hydroxylase0202
Alpha-ketoglutarate-dependent dioxygenase FTO0202
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
5-hydroxytryptamine receptor 3E0101
Luciferase3003
acetylcholinesterase2002
thioredoxin reductase7007
hypoxia-inducible factor 1 alpha subunit2002
RAR-related orphan receptor gamma4004
ATAD5 protein, partial3003
Fumarate hydratase3003
NFKB1 protein, partial3003
GLS protein7007
TDP1 protein5005
Microtubule-associated protein tau2002
AR protein5005
caspase 7, apoptosis-related cysteine protease2002
thyroid stimulating hormone receptor3003
estrogen receptor 2 (ER beta)2002
progesterone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 43003
EWS/FLI fusion protein3003
retinoic acid nuclear receptor alpha variant 13003
estrogen-related nuclear receptor alpha4004
G2002
cytochrome P450 2D62002
polyprotein3003
Beta-1 adrenergic receptor 0101
glucocerebrosidase2002
bromodomain adjacent to zinc finger domain 2B2002
peroxisome proliferator-activated receptor delta3003
vitamin D (1,25- dihydroxyvitamin D3) receptor5005
caspase-32002
IDH11001
Adenylate cyclase type 1 0202
Histone H2A.x1001
Bloom syndrome protein isoform 15005
cytochrome P450 2D6 isoform 12002
peripheral myelin protein 22 isoform 13003
cytochrome P450 2C19 precursor1001
cytochrome P450 2C9 precursor2002
D(1A) dopamine receptor2002
chromobox protein homolog 14004
potassium voltage-gated channel subfamily H member 2 isoform d2002
thyroid hormone receptor beta isoform 23003
DNA polymerase beta1001
mitogen-activated protein kinase 11001
atrial natriuretic peptide receptor 2 precursor1001
DNA polymerase iota isoform a (long)2002
nuclear receptor ROR-gamma isoform 13003
short transient receptor potential channel 6 isoform 10011
peripheral myelin protein 224004
survival motor neuron protein isoform d2002
cytochrome P450 3A4 isoform 13003
M-phase phosphoprotein 84004
transient receptor potential cation channel subfamily V member 12002
muscarinic acetylcholine receptor M14004
lethal factor (plasmid)3003
lamin isoform A-delta102002
Gamma-aminobutyric acid receptor subunit pi3104
Polyunsaturated fatty acid lipoxygenase ALOX15B2002
ATP-binding cassette sub-family C member 30404
Multidrug resistance-associated protein 40404
Voltage-dependent L-type calcium channel subunit alpha-1F0202
Bile salt export pump0101
5-hydroxytryptamine receptor 3A0101
5-hydroxytryptamine receptor 40404
Voltage-dependent calcium channel gamma-2 subunit3003
5-hydroxytryptamine receptor 3B0101
Bile salt export pump0404
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 2002
Albumin0022
Aldo-keto reductase family 1 member B10404
Muscarinic acetylcholine receptor M20314
Muscarinic acetylcholine receptor M40314
ATP-dependent translocase ABCB10204
Muscarinic acetylcholine receptor M10404
Muscarinic acetylcholine receptor M30404
Muscarinic acetylcholine receptor M40404
Cytochrome P450 3A40215
5-hydroxytryptamine receptor 1A0404
5-hydroxytryptamine receptor 2C0404
Muscarinic acetylcholine receptor M50404
Muscarinic acetylcholine receptor M50404
Alpha-2A adrenergic receptor0404
Calmodulin-10101
Beta-2 adrenergic receptor0404
Cytochrome P450 2D60012
Muscarinic acetylcholine receptor M20404
Muscarinic acetylcholine receptor M10415
Cytochrome P450 2C9 0214
Angiotensin-converting enzyme0303
5-hydroxytryptamine receptor 2A0404
Gamma-aminobutyric acid receptor subunit beta-13104
Alpha-1B adrenergic receptor0617
Alpha-2B adrenergic receptor0404
Beta-1 adrenergic receptor0202
Gamma-aminobutyric acid receptor subunit delta3104
Gamma-aminobutyric acid receptor subunit gamma-23104
Alpha-2C adrenergic receptor0404
D0404
D(3) dopamine receptor0404
5-hydroxytryptamine receptor 1A0505
Alpha-2B adrenergic receptor0314
Glutamate receptor 23216
Gamma-aminobutyric acid receptor subunit alpha-53104
Gamma-aminobutyric acid receptor subunit alpha-33104
D(2) dopamine receptor0404
Muscarinic acetylcholine receptor M30314
Endothelin receptor type B0101
D(1A) dopamine receptor0406
D(1B) dopamine receptor0305
Adenylate cyclase type 30202
Alpha-2C adrenergic receptor0314
UDP-glucuronosyltransferase 1A40002
Alpha-2A adrenergic receptor0314
Gamma-aminobutyric acid receptor subunit gamma-13104
Gamma-aminobutyric acid receptor subunit alpha-23104
Alpha-1D adrenergic receptor0516
Sodium-dependent noradrenaline transporter 0404
Sodium-dependent dopamine transporter0303
5-hydroxytryptamine receptor 3A0202
Endothelin receptor type B0101
Histamine H2 receptor0404
Adenosine receptor A10203
Alpha-1D adrenergic receptor0404
D(1B) dopamine receptor0404
Beta-3 adrenergic receptor0202
Adenylate cyclase type 20202
Adenylate cyclase type 40202
5-hydroxytryptamine receptor 2A0406
5-hydroxytryptamine receptor 2C0415
Gamma-aminobutyric acid receptor subunit alpha-43104
Gamma-aminobutyric acid receptor subunit gamma-33104
5-hydroxytryptamine receptor 1B0303
5-hydroxytryptamine receptor 1D0303
Gamma-aminobutyric acid receptor subunit alpha-63104
D(4) dopamine receptor0404
5-hydroxytryptamine receptor 1F0303
5-hydroxytryptamine receptor 2B0415
Histamine H1 receptor0101
Histamine H1 receptor0404
Sodium-dependent serotonin transporter0404
Sodium-dependent serotonin transporter0202
5-hydroxytryptamine receptor 7 0202
Cytochrome P450 2C190012
5-hydroxytryptamine receptor 2C 0202
5-hydroxytryptamine receptor 70202
Alpha-1A adrenergic receptor0202
5-hydroxytryptamine receptor 2A0202
Histamine H1 receptor0428
Alpha-1B adrenergic receptor0202
5-hydroxytryptamine receptor 3A0101
Adenylate cyclase type 80202
5-hydroxytryptamine receptor 2B0617
Alpha-1A adrenergic receptor0617
5-hydroxytryptamine receptor 3A0101
Histamine H2 receptor2003
5-hydroxytryptamine receptor 5A0101
5-hydroxytryptamine receptor 60304
Cytochrome P450 2J20203
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0101
D(2) dopamine receptor0202
D(3) dopamine receptor0202
Gastrin/cholecystokinin type B receptor0202
Spike glycoprotein2002
D(2) dopamine receptor0101
Calmodulin 0011
Gamma-aminobutyric acid receptor subunit alpha-13104
Gamma-aminobutyric acid receptor subunit beta-33104
Gamma-aminobutyric acid receptor subunit beta-23104
Inositol monophosphatase 11001
Voltage-dependent L-type calcium channel subunit alpha-1D 0202
Sodium-dependent dopamine transporter 0101
5-hydroxytryptamine receptor 2B0202
Adenylate cyclase type 60202
Adenylate cyclase type 50202
Potassium voltage-gated channel subfamily H member 20505
5-hydroxytryptamine receptor 40202
Voltage-dependent L-type calcium channel subunit alpha-1S0202
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Transporter0202
Cholecystokinin receptor type A0202
5-hydroxytryptamine receptor 1A0101
Nuclear receptor subfamily 3 group C member 3 0202
5-hydroxytryptamine receptor 3D0101
Adenylyl cyclase 7 0202
5-hydroxytryptamine receptor 3C0101
GABA theta subunit3104
Inositol hexakisphosphate kinase 12002
Canalicular multispecific organic anion transporter 10404
D0303
ATPase family AAA domain-containing protein 53003
Ataxin-23003
Sigma non-opioid intracellular receptor 10303
Gamma-aminobutyric acid receptor subunit epsilon3104
Histamine H4 receptor0112
5-hydroxytryptamine receptor 3B0101
Sigma non-opioid intracellular receptor 10303
Transporter0101
Histamine H3 receptor0101
cytochrome P450 2C9, partial2002
Chain A, GLUTAMATE RECEPTOR SUBUNIT 20101
Chain A, Glutamate Receptor Subunit 20101
Chain B, Glutamate Receptor Subunit 20101
Chain A, Slr1257 protein0011
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]0101
glp-1 receptor, partial2002
phosphopantetheinyl transferase3003
regulator of G-protein signaling 44004
euchromatic histone-lysine N-methyltransferase 27007
beta-2 adrenergic receptor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
Metabotropic glutamate receptor 80202
Metabotropic glutamate receptor 60113
Glutamate receptor ionotropic, NMDA 2D0101
Excitatory amino acid transporter 40101
Glutamate receptor ionotropic, NMDA 3B0101
Glutathione reductase, mitochondrial0202
Bifunctional aspartokinase/homoserine dehydrogenase 10101
Prothrombin0011
Carbonic anhydrase 10003
Carbonic anhydrase 20003
Integrin beta-30011
Integrin alpha-IIb0011
Glutamate receptor 10213
Glutamate receptor 30213
Glutamate receptor 40213
Glutamate receptor ionotropic, kainate 10213
Metabotropic glutamate receptor 10112
Metabotropic glutamate receptor 20011
Metabotropic glutamate receptor 30011
Metabotropic glutamate receptor 40112
Metabotropic glutamate receptor 50011
Metabotropic glutamate receptor 60011
Metabotropic glutamate receptor 70011
Glutamate receptor ionotropic, NMDA 1 0416
Glutamate receptor ionotropic, kainate 10112
Metabotropic glutamate receptor 50113
Glutamate receptor ionotropic, kainate 20213
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30112
Glutamate receptor ionotropic, kainate 30202
Excitatory amino acid transporter 10203
Excitatory amino acid transporter 20203
Excitatory amino acid transporter 30203
Metabotropic glutamate receptor 80011
Glutamate receptor 40213
Excitatory amino acid transporter 3 0001
Glutamate racemase0001
Metabotropic glutamate receptor 80112
Fatty-acid amide hydrolase 10101
Glutamate receptor ionotropic, NMDA 2A 0315
Glutamate receptor ionotropic, NMDA 2B0315
Glutamate receptor ionotropic, NMDA 2C0315
Glutamate receptor ionotropic, kainate 40202
Glutamate carboxypeptidase 20101
Glutamate receptor ionotropic, NMDA 10101
Glutamate receptor ionotropic, NMDA 2A0101
Glutamate receptor ionotropic, kainate 20112
Glutamate receptor ionotropic, kainate 30101
Glutamate receptor ionotropic, NMDA 2B0101
Metabotropic glutamate receptor 10113
Metabotropic glutamate receptor 20113
Metabotropic glutamate receptor 70113
Metabotropic glutamate receptor 30113
Metabotropic glutamate receptor 40113
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, kainate 50101
Carbonic anhydrase-like protein, putative0003
Glutamate receptor ionotropic, NMDA 2D0315
Glutamate receptor ionotropic, kainate 50202
Glutamate racemase0001
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0315
Glutamate receptor ionotropic, NMDA 3A0315
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial3003
arylsulfatase A4004
flap endonuclease 13003
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Neutral amino acid transporter A0202
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0202
Amino acid transporter0202
ATP-dependent phosphofructokinase6006
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Thrombopoietin1001
nonstructural protein 12002
pregnane X nuclear receptor2002
thyroid stimulating hormone receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)1001
serine/threonine-protein kinase mTOR isoform 11001
geminin4004
Cocaine esterase0101
Solute carrier family 22 member 1 0101
Transient receptor potential cation channel subfamily V member 10101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
UDP-glucuronosyltransferase 1A90102
Potassium channel subfamily K member 20101
Major prion protein0011
Vitamin D-binding protein0101
HLA class I histocompatibility antigen, A alpha chain 0011
Integrin beta-10101
Integrin alpha-40101
Carbonyl reductase [NADPH] 10001
UDP-glucuronosyltransferase 2B70102
C-8 sterol isomerase0101
Delta-type opioid receptor0101
Mu-type opioid receptor0101
Kappa-type opioid receptor0101
Mu-type opioid receptor0213
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0101
Kappa-type opioid receptor0101
5-hydroxytryptamine receptor 2A0101
D(1A) dopamine receptor1102
5-hydroxytryptamine receptor 70101
AP-2 complex subunit sigma0101
N-acetyltransferase Eis0202
Sodium channel protein type 7 subunit alpha0101
TAR DNA-binding protein 431001
Sodium channel protein type 5 subunit alpha0101
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase0101
Sodium channel protein type 9 subunit alpha0101
Calcitonin gene-related peptide type 1 receptor0101
Genome polyprotein 0202
Sigma intracellular receptor 20101
Sigma intracellular receptor 20101
Sigma non-opioid intracellular receptor 10101
Zinc finger protein 6640101
Vesicular acetylcholine transporter0101
Protease 0202
Sodium channel protein type 2 subunit alpha0101
Transient receptor potential cation channel subfamily V member 40101
Sodium channel protein type 3 subunit alpha0101
Sodium channel protein type 11 subunit alpha0101
Sodium channel protein type 8 subunit alpha0101
Transient receptor potential cation channel subfamily V member 20101
Sodium channel protein type 10 subunit alpha0101
ClpP1001
lysosomal alpha-glucosidase preproprotein1001
Solute carrier family 22 member 80001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, ATP-DEPENDENT DNA HELICASE Q12002
dopamine D1 receptor1001
WRN1001
integrase, partial0101
lens epithelium-derived growth factor p750101
apical membrane antigen 1, AMA11001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
pyruvate kinase1001
hexokinase-4 isoform 11001
atrial natriuretic peptide receptor 1 precursor2002
glucokinase regulatory protein1001
importin subunit beta-1 isoform 11001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
snurportin-11001
DNA polymerase eta isoform 11001
DNA polymerase kappa isoform 12002
Polyphenol oxidase 20001
Carbonic anhydrase 120001
Epidermal growth factor receptor0101
Plasma kallikrein0001
Tyrosine-protein kinase Lck0101
Tyrosine-protein kinase Fyn0101
Carbonic anhydrase 30001
Polyunsaturated fatty acid lipoxygenase ALOX150101
Tyrosinase0101
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Solute carrier family 15 member 10101
Carbonic anhydrase0001
Large neutral amino acids transporter small subunit 10303
SLC16A10 protein0001
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Carbonic anhydrase 0001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
phosphoglycerate kinase1001
Chain A, Methionyl-tRNA synthetase0011
Chain A, Methionyl-tRNA synthetase0011
Chain A, Aminopeptidase0101
Chain A, Methionine aminopeptidase0101
S-ribosylhomocysteine lyase0101
Adenylate cyclase type 50001
S-adenosylmethionine synthase isoform type-10001
S-adenosylmethionine synthase isoform type-20001
Fatty acid synthase0101
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Proton-coupled amino acid transporter 10101
Chain A, Nuclear Receptor ROR-beta0101
Chain A, Beta-lactamase2002
Chain A, Ferritin light chain1001
Chain A, Cruzipain2002
pregnane X receptor1001
USP1 protein, partial1001
thioredoxin glutathione reductase2002
retinoid X nuclear receptor alpha2002
Parkin1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
activating transcription factor 61001
thyrotropin-releasing hormone receptor1001
Caspase-71001
vitamin D3 receptor isoform VDRA1001
nuclear factor erythroid 2-related factor 2 isoform 21001
caspase-31001
heat shock protein beta-11001
histone acetyltransferase KAT2A isoform 11001
Ornithine decarboxylase0001
Cellular tumor antigen p531001
Amyloid-beta precursor protein0101
Cytochrome P450 1A20011
Ornithine decarboxylase0001
60 kDa chaperonin0101
Adenosine receptor A30202
Retinoic acid receptor alpha0227
60 kDa heat shock protein, mitochondrial0101
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Retinoic acid receptor gamma 0227
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-alpha0123
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Nuclear receptor ROR-alpha0101
Alpha-synuclein0101
Cellular retinoic acid-binding protein 10102
Retinoic acid receptor RXR-gamma0224
Nuclear receptor ROR-gamma0112
10 kDa heat shock protein, mitochondrial0101
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Indoleamine 2,3-dioxygenase 20101
Nuclear receptor ROR-beta0101
Chain A, Arginase 10101
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
neuropeptide S receptor isoform A1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]