MCID: WGR001
MIFTS: 53

Wagr Syndrome malady

Categories: Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Wagr Syndrome

Aliases & Descriptions for Wagr Syndrome:

Name: Wagr Syndrome 38 12 50 25 56 52 42 14 69
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 25 29
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome 50 56
Chromosome 11p Deletion Syndrome 50 69
11p Partial Monosomy Syndrome 12 25
11p Deletion Syndrome 50 25
Deletion 11p13 56 69
Wagr Complex 50 25
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 13
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome 50
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 12
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome 50
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 25
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome 25
Chromosome 11p13 Deletion Syndrome 12
Wagr Contiguous Gene Syndrome 25
Monosomy 11p13 56
Del(11)(p13) 56
Agr Triad 50

Characteristics:

Orphanet epidemiological data:

56
wagr syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:14515
MeSH 42 D017624
NCIt 47 C3718
SNOMED-CT 64 4135001
Orphanet 56 ORPHA893
MESH via Orphanet 43 C538295 D017624
UMLS via Orphanet 70 C0206115 C2931803
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0206115

Summaries for Wagr Syndrome

NIH Rare Diseases : 50 wagr syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. wagr is an acronym for wilms tumor, aniridia, genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and range of developmental delays. a combination of two or more of these conditions is usually present in most individuals with wagr syndrome. the syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. in most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). only rarely is the mutation inherited. treatment of wagr syndrome is aimed at addressing the specific symptoms that are present in each individual. last updated: 7/11/2016

MalaCards based summary : Wagr Syndrome, also known as wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, is related to aniridia and miller syndrome, and has symptoms including obesity, ptosis and nystagmus. An important gene associated with Wagr Syndrome is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are MECP2 and Associated Rett Syndrome and Follicle Stimulating Hormone (FSH) signaling pathway. The drugs Azacitidine and Decitabine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, eye and kidney, and related phenotypes are normal and respiratory system

Genetics Home Reference : 25 WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).

Disease Ontology : 12 A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.

Wikipedia : 71 WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour... more...

Related Diseases for Wagr Syndrome

Graphical network of the top 20 diseases related to Wagr Syndrome:



Diseases related to Wagr Syndrome

Symptoms & Phenotypes for Wagr Syndrome

Human phenotypes related to Wagr Syndrome:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 56 32 Occasional (29-5%) HP:0001513
2 ptosis 56 32 Frequent (79-30%) HP:0000508
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 scoliosis 56 32 Occasional (29-5%) HP:0002650
6 cataract 56 32 Frequent (79-30%) HP:0000518
7 microcephaly 56 32 Frequent (79-30%) HP:0000252
8 visual impairment 56 32 Frequent (79-30%) HP:0000505
9 short stature 56 32 Frequent (79-30%) HP:0004322
10 micrognathia 56 32 Frequent (79-30%) HP:0000347
11 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
12 hearing abnormality 56 32 Frequent (79-30%) HP:0000364
13 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
14 glaucoma 56 32 Occasional (29-5%) HP:0000501
15 aplasia/hypoplasia of the iris 56 32 Very frequent (99-80%) HP:0008053
16 ambiguous genitalia 56 32 Occasional (29-5%) HP:0000062
17 dysfunction of lateral corticospinal tracts 56 32 Occasional (29-5%) HP:0007299
18 displacement of the external urethral meatus 56 32 Frequent (79-30%) HP:0100627

UMLS symptoms related to Wagr Syndrome:


genitourinary signs and symptoms

MGI Mouse Phenotypes related to Wagr Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.43 ALX4 BDNF LUZP2 MECP2 PAX6 WT1
2 respiratory system MP:0005388 9.02 ALX4 BDNF MECP2 PAX6 WT1

Drugs & Therapeutics for Wagr Syndrome

Drugs for Wagr Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 2, Phase 3 320-67-2 9444
2
Decitabine Approved, Investigational Phase 2, Phase 3 2353-33-5 451668
3 Antimetabolites Phase 2, Phase 3
4 Antimetabolites, Antineoplastic Phase 2, Phase 3
5
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
6
Diphenhydramine Approved Phase 1, Phase 2 58-73-1, 147-24-0 3100
7
Histamine Approved, Investigational Phase 1, Phase 2 75614-87-8, 51-45-6 774
8
Promethazine Approved Phase 1, Phase 2 60-87-7 4927
9
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337
10 tannic acid Approved, Nutraceutical Phase 1, Phase 2
11 Vaccines Phase 2,Phase 1,Early Phase 1
12 Adjuvants, Immunologic Phase 1, Phase 2
13 Analgesics Phase 1, Phase 2
14 Analgesics, Non-Narcotic Phase 1, Phase 2
15 Anesthetics Phase 1, Phase 2
16 Anesthetics, Local Phase 1, Phase 2
17 Anti-Allergic Agents Phase 1, Phase 2
18 Antiemetics Phase 1, Phase 2
19 Antipruritics Phase 1, Phase 2
20 Antipyretics Phase 1, Phase 2
21 Antirheumatic Agents Phase 1, Phase 2
22 Autonomic Agents Phase 1, Phase 2
23 Central Nervous System Depressants Phase 1, Phase 2
24 Dermatologic Agents Phase 1, Phase 2
25 Gastrointestinal Agents Phase 1, Phase 2
26 Histamine Antagonists Phase 1, Phase 2
27 Histamine H1 Antagonists Phase 1, Phase 2
28
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
29 Hypnotics and Sedatives Phase 1, Phase 2
30 Interleukin-4 Phase 1, Phase 2
31 Keyhole-limpet hemocyanin Phase 1, Phase 2
32 Neurotransmitter Agents Phase 1, Phase 2
33 Peripheral Nervous System Agents Phase 1, Phase 2
34 Hemostatics

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Decitabine Augments for Post Allogeneic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia and Myelodysplastic Syndrome Unknown status NCT01809392 Phase 2, Phase 3
2 Wilm's Tumor 1 (WT1) Peptide Vaccine for High Risk Hematologic Malignancy Completed NCT00433745 Phase 2
3 Wilm's Tumor 1 Protein Vaccine to Treat Cancers of the Blood Completed NCT00923910 Phase 1, Phase 2
4 Peptide Vaccinations to Treat Patients With Low-Risk Myeloid Cancers Completed NCT00488592 Phase 2
5 Cellular Immunotherapy for Patients With High Risk Myelodysplastic Syndromes and Acute Myeloid Leukemia Recruiting NCT03083054 Phase 1, Phase 2
6 A Phase I/II Study of Gene-modified WT1 TCR Therapy in MDS & AML Patients Recruiting NCT02550535 Phase 1, Phase 2
7 Safety of Peptide Vaccination for Patients With Myelodysplastic Syndrome Completed NCT00270452 Phase 1
8 A Study of DSP-7888 Dosing Emulsion in Adult Patients With Advanced Malignancies Recruiting NCT02498665 Phase 1
9 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
10 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
11 Prognostic Role of Minimal Residual Disease in Acute Myeloid Leukemia Completed NCT02714790
12 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
13 Vaccine Therapy in Treating Patients With Myelodysplastic Syndromes Active, not recruiting NCT00361296 Early Phase 1

Search NIH Clinical Center for Wagr Syndrome

Cochrane evidence based reviews: wagr syndrome

Genetic Tests for Wagr Syndrome

Genetic tests related to Wagr Syndrome:

id Genetic test Affiliating Genes
1 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 29

Anatomical Context for Wagr Syndrome

MalaCards organs/tissues related to Wagr Syndrome:

39
Eye, Kidney, Ovary, Testes, Brain, Fetal Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Wagr Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Metanephric Mesenchyme Metanephric Mesenchyme Cells Affected by disease

Publications for Wagr Syndrome

Articles related to Wagr Syndrome:

(show all 46)
id Title Authors Year
1
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. ( 28231309 )
2017
2
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
3
Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report. ( 27882234 )
2016
4
Prenatal Diagnosis of WAGR Syndrome. ( 26605098 )
2015
5
A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning. ( 26109842 )
2015
6
A Case of WAGR Syndrome with Peters' Anomaly. ( 25902081 )
2015
7
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6a88Mb including PAX6, WT1, and PRRG4. ( 24357251 )
2013
8
Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome. ( 23152176 )
2012
9
Billateral polycystic kidneys in a girl with WAGR syndrome. ( 21660403 )
2011
10
Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome. ( 21824479 )
2011
11
WAGR syndrome with tetralogy of Fallot and hydrocephalus. ( 21364466 )
2011
12
Clinical utility gene card for: WAGR syndrome. ( 21224893 )
2011
13
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation. ( 20635368 )
2010
14
Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. ( 19004815 )
2009
15
WAGR syndrome--a case report. ( 20405644 )
2009
16
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. ( 18753648 )
2008
17
Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. ( 18293378 )
2008
18
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. ( 19096215 )
2008
19
Complete sex reversal in a WAGR syndrome patient. ( 17935232 )
2007
20
[Multicystic renal tumor in a patient with WAGR syndrome]. ( 17295033 )
2007
21
WAGR syndrome--a case report. ( 17899969 )
2007
22
WAGR syndrome: is the 'R' always justified? ( 17159522 )
2007
23
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. ( 16545979 )
2006
24
[Association between WAGR syndrome and diaphragmatic hernia]. ( 17194330 )
2006
25
Congenital diaphragmatic hernia in WAGR syndrome. ( 15779010 )
2005
26
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. ( 15779023 )
2005
27
Bilateral preaxial polydactyly in a WAGR syndrome patient. ( 15742368 )
2005
28
WAGR syndrome: a clinical review of 54 cases. ( 16199712 )
2005
29
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. ( 15354948 )
2004
30
WAGR syndrome with deletion of chromosome 11p11.2-13. ( 15314606 )
2004
31
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. ( 12702167 )
2003
32
Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). ( 11807873 )
2002
33
Morbid obesity and hyperphagia in the WAGR syndrome. ( 11822711 )
2002
34
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. ( 12150218 )
2002
35
WAGR syndrome in a baby--the result of 6-MP treatment in a father affected by Crohn's disease? ( 11197266 )
2001
36
Anaesthetic management for a patient with WAGR syndrome. ( 11766686 )
2001
37
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. ( 11735802 )
2001
38
Obesity and WAGR syndrome. ( 10649802 )
2000
39
Renal pathology in WAGR syndrome. ( 9025899 )
1996
40
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). ( 8558565 )
1995
41
A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome. ( 7896291 )
1994
42
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. ( 7987386 )
1994
43
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. ( 8396067 )
1993
44
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. ( 7687865 )
1993
45
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. ( 1331933 )
1992
46
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. ( 2574149 )
1989

Variations for Wagr Syndrome

ClinVar genetic disease variations for Wagr Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 subset of 14 genes:PAX6; WT1 NC_000011.9: g.(?_29750813)_(32752091_?)del copy number loss Pathogenic GRCh37 Chromosome 11, 29750813: 32752091

Copy number variations for Wagr Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 52917 11 21600000 43400000 Deletion WAGR syndrome
2 53564 11 31000000 36400000 Copy number WT1 WAGR syndrome
3 53572 11 31000000 36400000 Deletion WT1 WAGR syndrome
4 53585 11 31000000 36400000 Microdeletion WAGR syndrome
5 53592 11 31000000 43400000 Deletion WAGR syndrome
6 53593 11 31000000 43400000 Deletion PAX6 WAGR syndrome
7 53597 11 31000000 52900000 Deletion PAX6 WAGR syndrome
8 53599 11 31000000 52900000 Deletion WT1 WAGR syndrome
9 53658 11 31762915 31796085 Copy number PAX6 WAGR syndrome
10 53727 11 32365900 32413663 Deletion WT1 WAGR syndrome

Expression for Wagr Syndrome

Search GEO for disease gene expression data for Wagr Syndrome.

Pathways for Wagr Syndrome

Pathways related to Wagr Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.75 BDNF MECP2
2 10.05 BDNF FSHB

GO Terms for Wagr Syndrome

Biological processes related to Wagr Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.62 MECP2 PAX6 SRY WT1
2 regulation of transcription from RNA polymerase II promoter GO:0006357 9.56 ALX4 PAX6 SRY WT1
3 camera-type eye development GO:0043010 9.43 PAX6 WT1
4 synapse assembly GO:0007416 9.4 BDNF MECP2
5 positive regulation of synapse assembly GO:0051965 9.37 BDNF MECP2
6 glutamine metabolic process GO:0006541 9.16 ALDH5A1 MECP2
7 positive regulation of male gonad development GO:2000020 8.96 SRY WT1
8 post-embryonic development GO:0009791 8.8 ALDH5A1 ALX4 MECP2

Molecular functions related to Wagr Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 ALX4 MECP2 PAX6 SRY WT1
2 transcription factor binding GO:0008134 9.43 MECP2 PAX6 SRY
3 HMG box domain binding GO:0071837 8.96 ALX4 PAX6
4 double-stranded methylated DNA binding GO:0010385 8.62 MECP2 WT1

Sources for Wagr Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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