11p Partial Monosomy Syndrome

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Synonyms(11)

Synonym
WAGR Complex
WAGR Contiguous Gene Syndrome
WAGR Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Contiguous Gene Syndrome, WAGR
11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Research Excerpts

Overview

Excerpt	Reference
"WAGR syndrome is an acronym for a rare constellation of congenital abnormalities including predisposition to Wilms' tumor, Aniridia, Genitourinary malformations, and mental Retardation."	( Haber, DA; Nisen, P; Park, S; Tomlinson, G, 1993)
"WAGR Syndrome is an acronym for a rare constellation of congenital abnormalities which include Wilms' tumor, Aniridia, Genito-urinary malformations and mental Retardation."	( Chittora, R; Khamesera, HL; Mathur, P; Pendse, AK; Porewal, KK, 1996)
"The WAGR syndrome is a combination of Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation."	( Braun, KP; Erler, T; Hoschke, B; May, M, 2007)

Treatment

Excerpt	Reference
"We report a case of WAGR syndrome, with Stage-IV Wilms' tumor and intracaval extension, treated by multimodal therapy."	( Chittora, R; Khamesera, HL; Mathur, P; Pendse, AK; Porewal, KK, 1996)

Research

Studies (6)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	2 (33.33)	12.5806
2000's	3 (50.00)	18.1394
2010's	1 (16.67)	28.8240
2020's	0 (0.00)	9.53

Drug	Relationship Strength	Studies
glycine	low	1
aspartic acid	low	1
bezafibrate	low	1
dactinomycin	low	2
mercaptopurine	low	1
leptin	low	1

Protein Targets (185)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	2	0	0	2
Chain A, Ferritin light chain	2	0	0	2
phosphopantetheinyl transferase	3	0	0	3
aldehyde dehydrogenase 1 family, member A1	4	0	0	4
arylsulfatase A	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
Bloom syndrome protein isoform 1	2	0	0	2
cytochrome P450 2C19 precursor	1	0	0	1
lethal factor (plasmid)	1	0	0	1
lamin isoform A-delta10	1	0	0	1
Metabotropic glutamate receptor 6	0	0	1	1
Excitatory amino acid transporter 4	0	1	0	1
Glutamate transporter homolog	0	0	1	1
Carbonic anhydrase 1	0	0	0	1
Carbonic anhydrase 2	0	0	0	1
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	0	1	0	1
5-hydroxytryptamine receptor 1D	0	0	0	1
Glutamate receptor ionotropic, NMDA 1	0	3	1	4
Excitatory amino acid transporter 1	0	1	0	1
Excitatory amino acid transporter 2	0	1	0	1
Excitatory amino acid transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	3	1	4
Glutamate receptor ionotropic, NMDA 2B	0	3	1	4
Glutamate receptor ionotropic, NMDA 2C	0	3	1	4
Metabotropic glutamate receptor 1	0	0	1	1
Metabotropic glutamate receptor 2	0	0	1	1
Carbonic anhydrase-like protein, putative	0	0	0	1
Glutamate receptor ionotropic, NMDA 2D	0	3	1	4
Glutamate receptor ionotropic, NMDA 3B	0	3	1	4
Carbonic anhydrase 4	0	0	0	1
Glutamate receptor ionotropic, NMDA 3A	0	3	1	4
Luciferase	1	0	0	1
thioredoxin reductase	1	0	0	1
RAR-related orphan receptor gamma	3	0	0	3
farnesoid X nuclear receptor	3	0	0	3
pregnane X nuclear receptor	3	0	0	3
estrogen nuclear receptor alpha	3	0	0	3
G	2	0	0	2
peroxisome proliferator-activated receptor delta	2	0	0	2
peroxisome proliferator activated receptor gamma	2	0	0	2
D(1A) dopamine receptor	1	0	0	1
chromobox protein homolog 1	1	0	0	1
flap endonuclease 1	1	0	0	1
survival motor neuron protein isoform d	3	0	0	3
Glutamate receptor ionotropic, NMDA 2D	0	0	1	1
Glutamate receptor ionotropic, NMDA 3B	0	0	1	1
Bile salt export pump	0	1	0	1
5-hydroxytryptamine receptor 4	0	0	1	1
Bile salt export pump	0	2	0	2
Interferon beta	3	0	0	3
HLA class I histocompatibility antigen, B alpha chain	2	0	0	2
Fatty acid-binding protein, liver	0	1	0	1
Muscarinic acetylcholine receptor M1	0	0	1	1
Muscarinic acetylcholine receptor M3	0	0	1	1
Muscarinic acetylcholine receptor M4	0	0	1	1
Muscarinic acetylcholine receptor M5	0	0	1	1
Muscarinic acetylcholine receptor M2	0	0	1	1
Fatty acid-binding protein, intestinal	0	1	0	1
Peroxisome proliferator-activated receptor alpha	0	0	1	1
Peroxisome proliferator-activated receptor delta	0	0	1	1
Peroxisome proliferator-activated receptor gamma	0	0	1	1
Peroxisome proliferator-activated receptor gamma	0	0	1	1
Peroxisome proliferator-activated receptor delta	0	0	1	1
Glutamate receptor ionotropic, NMDA 1	0	0	1	1
Peroxisome proliferator-activated receptor alpha	0	0	1	1
Glutamate receptor ionotropic, NMDA 2A	0	0	1	1
Glutamate receptor ionotropic, NMDA 2B	0	0	1	1
Glutamate receptor ionotropic, NMDA 2C	0	0	1	1
Glutamate receptor ionotropic, NMDA 3A	0	0	1	1
Inositol hexakisphosphate kinase 1	2	0	0	2
cytochrome P450 2C9, partial	2	0	0	2
Chain A, Putative fructose-1,6-bisphosphate aldolase	2	0	0	2
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Chain A, Cruzipain	1	0	0	1
interleukin 8	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
USP1 protein, partial	1	0	0	1
TDP1 protein	2	0	0	2
GLI family zinc finger 3	2	0	0	2
Microtubule-associated protein tau	1	0	0	1
AR protein	3	0	0	3
caspase 7, apoptosis-related cysteine protease	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	2	0	0	2
progesterone receptor	2	0	0	2
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
glucocorticoid receptor [Homo sapiens]	2	0	0	2
retinoic acid nuclear receptor alpha variant 1	2	0	0	2
retinoid X nuclear receptor alpha	2	0	0	2
estrogen-related nuclear receptor alpha	2	0	0	2
vitamin D (1,25- dihydroxyvitamin D3) receptor	2	0	0	2
caspase-3	1	0	0	1
RAD51	0	1	0	1
aryl hydrocarbon receptor	2	0	0	2
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	2	0	0	2
activating transcription factor 6	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	1	0	0	1
Histone H2A.x	2	0	0	2
Caspase-7	1	0	0	1
vitamin D3 receptor isoform VDRA	1	0	0	1
thyroid hormone receptor beta isoform a	1	0	0	1
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	1	0	0	1
huntingtin isoform 2	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	2	0	0	2
nuclear receptor ROR-gamma isoform 1	1	0	0	1
peripheral myelin protein 22	1	0	0	1
cytochrome P450 3A4 isoform 1	1	0	0	1
caspase-1 isoform alpha precursor	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	1	0	0	1
Voltage-dependent calcium channel gamma-2 subunit	2	0	0	2
Cellular tumor antigen p53	2	0	0	2
ATP-dependent translocase ABCB1	0	0	0	1
Gamma-aminobutyric acid receptor subunit beta-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit delta	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	1	0	0	1
Glutamate receptor 2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	1	0	0	1
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1	0	1	0	1
Nuclear receptor ROR-gamma	1	0	0	1
Caspase-7	1	0	0	1
Spike glycoprotein	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	1	0	0	1
Growth factor receptor-bound protein 2	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit beta-2	1	0	0	1
Pantothenate synthetase	0	1	0	1
Discoidin domain-containing receptor 2	0	1	0	1
Growth factor receptor-bound protein 2	0	1	0	1
Reverse transcriptase/RNaseH	0	1	0	1
GABA theta subunit	1	0	0	1
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	0	0	1	1
ATPase family AAA domain-containing protein 5	2	0	0	2
Ataxin-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit epsilon	1	0	0	1
Glycine receptor subunit alpha-1	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Large neutral amino acids transporter small subunit 1	0	1	0	1
Proton-coupled amino acid transporter 1	0	1	0	1
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
Chain A, Beta-lactamase	1	0	0	1
Chain A, JmjC domain-containing histone demethylation protein 3A	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
Fumarate hydratase	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
apical membrane antigen 1, AMA1	1	0	0	1
EWS/FLI fusion protein	1	0	0	1
cytochrome P450 2D6	1	0	0	1
polyprotein	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
IDH1	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
hemoglobin subunit beta	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
urokinase-type plasminogen activator precursor	1	0	0	1
plasminogen precursor	1	0	0	1
urokinase plasminogen activator surface receptor precursor	1	0	0	1
histone acetyltransferase KAT2A isoform 1	1	0	0	1
UDP-glucose 6-dehydrogenase	0	1	0	1
Solute carrier family 22 member 8	0	0	0	1
Hypoxanthine-guanine phosphoribosyltransferase	0	0	0	1
Integrin beta-3	1	0	0	1
Integrin alpha-IIb	1	0	0	1
UDP-glucose 6-dehydrogenase	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Purine nucleoside phosphorylase	0	0	1	1
UDP-glucuronosyltransferase 1A1	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

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