Page last updated: 2024-09-27

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

ExcerptReference
"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

ExcerptReference
"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)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's2 (33.33)12.5806
2000's3 (50.00)18.1394
2010's1 (16.67)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low10
aspartic acid0low10
bezafibrate0low10
dactinomycin0low20
mercaptopurine0low10
leptin0low10

Protein Targets (185)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Ferritin light chain2002
phosphopantetheinyl transferase3003
aldehyde dehydrogenase 1 family, member A14004
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 23003
Bloom syndrome protein isoform 12002
cytochrome P450 2C19 precursor1001
lethal factor (plasmid)1001
lamin isoform A-delta101001
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
Carbonic anhydrase 10001
Carbonic anhydrase 20001
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0314
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0314
Glutamate receptor ionotropic, NMDA 2B0314
Glutamate receptor ionotropic, NMDA 2C0314
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0001
Glutamate receptor ionotropic, NMDA 2D0314
Glutamate receptor ionotropic, NMDA 3B0314
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0314
Luciferase1001
thioredoxin reductase1001
RAR-related orphan receptor gamma3003
farnesoid X nuclear receptor3003
pregnane X nuclear receptor3003
estrogen nuclear receptor alpha3003
G2002
peroxisome proliferator-activated receptor delta2002
peroxisome proliferator activated receptor gamma2002
D(1A) dopamine receptor1001
chromobox protein homolog 11001
flap endonuclease 11001
survival motor neuron protein isoform d3003
Glutamate receptor ionotropic, NMDA 2D0011
Glutamate receptor ionotropic, NMDA 3B0011
Bile salt export pump0101
5-hydroxytryptamine receptor 40011
Bile salt export pump0202
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 2002
Fatty acid-binding protein, liver0101
Muscarinic acetylcholine receptor M10011
Muscarinic acetylcholine receptor M30011
Muscarinic acetylcholine receptor M40011
Muscarinic acetylcholine receptor M50011
Muscarinic acetylcholine receptor M20011
Fatty acid-binding protein, intestinal0101
Peroxisome proliferator-activated receptor alpha0011
Peroxisome proliferator-activated receptor delta0011
Peroxisome proliferator-activated receptor gamma0011
Peroxisome proliferator-activated receptor gamma0011
Peroxisome proliferator-activated receptor delta0011
Glutamate receptor ionotropic, NMDA 10011
Peroxisome proliferator-activated receptor alpha0011
Glutamate receptor ionotropic, NMDA 2A0011
Glutamate receptor ionotropic, NMDA 2B0011
Glutamate receptor ionotropic, NMDA 2C0011
Glutamate receptor ionotropic, NMDA 3A0011
Inositol hexakisphosphate kinase 12002
cytochrome P450 2C9, partial2002
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Cruzipain1001
interleukin 81001
15-lipoxygenase, partial1001
hypoxia-inducible factor 1 alpha subunit1001
USP1 protein, partial1001
TDP1 protein2002
GLI family zinc finger 32002
Microtubule-associated protein tau1001
AR protein3003
caspase 7, apoptosis-related cysteine protease1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 32002
progesterone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 41001
glucocorticoid receptor [Homo sapiens]2002
retinoic acid nuclear receptor alpha variant 12002
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha2002
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
caspase-31001
RAD510101
aryl hydrocarbon receptor2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
activating transcription factor 61001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x2002
Caspase-71001
vitamin D3 receptor isoform VDRA1001
thyroid hormone receptor beta isoform a1001
caspase-31001
thyroid hormone receptor beta isoform 21001
huntingtin isoform 21001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
nuclear factor erythroid 2-related factor 2 isoform 12002
nuclear receptor ROR-gamma isoform 11001
peripheral myelin protein 221001
cytochrome P450 3A4 isoform 11001
caspase-1 isoform alpha precursor1001
Gamma-aminobutyric acid receptor subunit pi1001
Voltage-dependent calcium channel gamma-2 subunit2002
Cellular tumor antigen p532002
ATP-dependent translocase ABCB10001
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Glutamate receptor 22002
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 10101
Nuclear receptor ROR-gamma1001
Caspase-71001
Spike glycoprotein2002
Gamma-aminobutyric acid receptor subunit alpha-11001
Growth factor receptor-bound protein 20101
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Pantothenate synthetase0101
Discoidin domain-containing receptor 20101
Growth factor receptor-bound protein 2 0101
Reverse transcriptase/RNaseH 0101
GABA theta subunit1001
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase0011
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Gamma-aminobutyric acid receptor subunit epsilon1001
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Large neutral amino acids transporter small subunit 10101
Proton-coupled amino acid transporter 10101
Serine racemase0101
Olfactory receptor 51E20011
Sodium- and chloride-dependent glycine transporter 20101
Chain A, Beta-lactamase1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
Fumarate hydratase1001
thioredoxin glutathione reductase1001
apical membrane antigen 1, AMA11001
EWS/FLI fusion protein1001
cytochrome P450 2D61001
polyprotein1001
bromodomain adjacent to zinc finger domain 2B1001
IDH11001
thyroid stimulating hormone receptor1001
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
transcriptional regulator ERG isoform 31001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
histone acetyltransferase KAT2A isoform 11001
UDP-glucose 6-dehydrogenase0101
Solute carrier family 22 member 80001
Hypoxanthine-guanine phosphoribosyltransferase0001
Integrin beta-31001
Integrin alpha-IIb1001
UDP-glucose 6-dehydrogenase0101
Prostaglandin G/H synthase 10101
Purine nucleoside phosphorylase0011
UDP-glucuronosyltransferase 1A1 0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]