MCID: WGR001
MIFTS: 57

Wagr Syndrome malady

Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases categories

Summaries for Wagr Syndrome

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NIH Rare Diseases:41 Wagr syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. wagr is an acronym for wilms tumor, aniridia, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental retardation syndrome. a combination of two or more of these conditions is usually present in most individuals with wagr syndrome. the syndrome is due to a microdeletion in the 11p13 region 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. last updated: 3/11/2009

MalaCards based summary: Wagr Syndrome, also known as deletion 11p13, is related to wilms tumor and succinic semialdehyde dehydrogenase deficiency, and has symptoms including aplasia/hypoplasia of the iris, cognitive impairment and cryptorchidism. An important gene associated with Wagr Syndrome is WT1 (Wilms tumor 1), and among its related pathways are FSH signaling pathway and Cardiac Progenitor Differentiation. The compounds hpaii and nap-2 have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are muscle and digestive/alimentary.

Disease Ontology:9 A chromosomal disease 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.

Genetics Home Reference:21 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, more commonly known by the acronym WAGR, is a syndrome that affects the development of many body systems.

Wikipedia:63 WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms... more...

Aliases & Classifications for Wagr Syndrome

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Wagr Syndrome, Aliases & Descriptions:

Name: Wagr Syndrome 30 9 41 21 11 43 47 60
Deletion 11p13 41 47 60
Wilms Tumor - Aniridia - Genitourinary Anomalies - Intellectual Disability 41 47
Chromosome 11p Deletion Syndrome 41 60
11p Partial Monosomy Syndrome 9 21
11p Deletion Syndrome 41 21
Monosomy 11p13 41 47
Wagr Complex 41 21
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 21
 
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 10
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome 41
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 9
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation 10
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome 41
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 21
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome 21
Wagr Contiguous Gene Syndrome 21
Partial Monosomy 11p 22


Classifications:



Characteristics (Orphanet epidemiological data):

47
wagr syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal


External Ids:

Disease Ontology9 DOID:14515
MeSH33 D017624
NCIt38 C3718
Orphanet47 893
SNOMED-CT55 4135001
MESH via Orphanet34 C538295, D017624
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0206115, C2931803

Related Diseases for Wagr Syndrome

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



Diseases related to wagr syndrome

Symptoms for Wagr Syndrome

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Symptoms:

 47 (show all 18)
  • aniridia/iris hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • nystagmus
  • ptosis
  • protruding lips
  • anomalies of ear and hearing
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • short stature/dwarfism/nanism
  • glaucoma
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • ambiguous genitalia
  • generalized obesity

HPO human phenotypes related to Wagr Syndrome:

(show all 18)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
2 cognitive impairment hallmark (90%) HP:0100543
3 cryptorchidism typical (50%) HP:0000028
4 everted lower lip vermilion typical (50%) HP:0000232
5 microcephaly typical (50%) HP:0000252
6 micrognathia typical (50%) HP:0000347
7 hearing abnormality typical (50%) HP:0000364
8 visual impairment typical (50%) HP:0000505
9 ptosis typical (50%) HP:0000508
10 cataract typical (50%) HP:0000518
11 nystagmus typical (50%) HP:0000639
12 short stature typical (50%) HP:0004322
13 displacement of the external urethral meatus typical (50%) HP:0100627
14 ambiguous genitalia occasional (7.5%) HP:0000062
15 glaucoma occasional (7.5%) HP:0000501
16 obesity occasional (7.5%) HP:0001513
17 scoliosis occasional (7.5%) HP:0002650
18 hernia of the abdominal wall occasional (7.5%) HP:0004299

Drugs & Therapeutics for Wagr Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Wagr Syndrome

Genetic Tests for Wagr Syndrome

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Genetic tests related to Wagr Syndrome:

id Genetic test Affiliating Genes
1 11p Partial Monosomy Syndrome22

Anatomical Context for Wagr Syndrome

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MalaCards organs/tissues related to Wagr Syndrome:

31
Eye, Testes, Kidney, Ovary, 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 TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Potential therapeutic candidate, affected by disease

Animal Models for Wagr Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wagr Syndrome:

35 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0IGF2, PAX6, ALDH5A1, ALX4, WT1
2MP:00053818.9BDNF, ALX4, H19, PAX6, IGF2
3MP:00053898.9BDNF, WT1, FSHB, PAX6, IGF2
4MP:00053678.8IGF2, PAX6, LIN7C, ALDH5A1, WT1
5MP:00053808.8IGF2, PAX6, H19, ALX4, WT1
6MP:00028738.6PAX6, LIN7C, H19, ALX4, WT1, BDNF
7MP:00053888.6BDNF, IGF2, PAX6, LIN7C, ALX4, WT1
8MP:00036318.1IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4
9MP:00053768.0IGF2, PAX6, LIN7C, FSHB, ALDH5A1, WT1
10MP:00053848.0IGF2, PAX6, LIN7C, H19, WT1, BDNF
11MP:00053787.9IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4
12MP:00107687.8IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4

Publications for Wagr Syndrome

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Articles related to Wagr Syndrome:

(show all 41)
idTitleAuthorsYear
1
A Case of WAGR Syndrome with Peters' Anomaly. (25902081)
2015
2
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
3
Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome. (23152176)
2012
4
WAGR syndrome with tetralogy of Fallot and hydrocephalus. (21364466)
2011
5
Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome. (21824479)
2011
6
Billateral polycystic kidneys in a girl with WAGR syndrome. (21660403)
2011
7
Clinical utility gene card for: WAGR syndrome. (21224893)
2011
8
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
9
WAGR syndrome--a case report. (20405644)
2009
10
Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. (19004815)
2009
11
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (18753648)
2008
12
Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. (18293378)
2008
13
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. (19096215)
2008
14
WAGR syndrome: is the 'R' always justified? (17159522)
2007
15
Multicystic renal tumor in a patient with WAGR syndrome]. (17295033)
2007
16
WAGR syndrome--a case report. (17899969)
2007
17
Complete sex reversal in a WAGR syndrome patient. (17935232)
2007
18
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. (16545979)
2006
19
Association between WAGR syndrome and diaphragmatic hernia]. (17194330)
2006
20
WAGR syndrome: a clinical review of 54 cases. (16199712)
2005
21
Congenital diaphragmatic hernia in WAGR syndrome. (15779010)
2005
22
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. (15779023)
2005
23
Bilateral preaxial polydactyly in a WAGR syndrome patient. (15742368)
2005
24
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. (15354948)
2004
25
WAGR syndrome with deletion of chromosome 11p11.2-13. (15314606)
2004
26
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. (12702167)
2003
27
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. (12150218)
2002
28
Morbid obesity and hyperphagia in the WAGR syndrome. (11822711)
2002
29
Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). (11807873)
2002
30
WAGR syndrome in a baby--the result of 6-MP treatment in a father affected by Crohn's disease? (11197266)
2001
31
Anaesthetic management for a patient with WAGR syndrome. (11766686)
2001
32
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. (11735802)
2001
33
Obesity and WAGR syndrome. (10649802)
2000
34
Renal pathology in WAGR syndrome. (9025899)
1996
35
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). (8558565)
1995
36
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. (7987386)
1994
37
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
38
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. (7687865)
1993
39
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. (8396067)
1993
40
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. (1331933)
1992
41
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. (2574149)
1989

Variations for Wagr Syndrome

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Expression for genes affiliated with Wagr Syndrome

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Search GEO for disease gene expression data for Wagr Syndrome.

Pathways for genes affiliated with Wagr Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8BDNF, FSHB
29.8PAX6, IGF2

Compounds for genes affiliated with Wagr Syndrome

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Sources:
43Novoseek, 59Tocris Bioscience, 24HMDB, 12DrugBank
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Compounds related to Wagr Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idCompoundScoreTop Affiliating Genes
1hpaii4310.1WT1, H19
2nap-24310.0H19, IGF2
3apai4310.0IGF2, H19
4rsai439.9H19, IGF2
5deoxyribonucleic acid439.9WT1, FSHB
6gnrh439.7IGF2, FSHB, BDNF
7agar439.6BDNF, H19, IGF2
8testosterone43 59 24 1212.4BDNF, WT1, FSHB, IGF2
9vegf439.4IGF2, PAX6, WT1, BDNF
10estradiol43 24 1211.4BDNF, FSHB, IGF2
11thymidine43 2410.4IGF2, H19, WT1, BDNF
12ribonucleic acid439.4IGF2, FSHB, H19, WT1
13acth439.4BDNF, H19, FSHB, IGF2
14arginine439.4WT1, ALDH5A1, PAX6, IGF2
15actinomycin d439.3IGF2, FSHB, BDNF
16glutamate439.3BDNF, ALDH5A1, PAX6, IGF2
17zinc43 2410.3IGF2, H19, WT1, BDNF
18retinoic acid43 2410.2BDNF, WT1, H19, PAX6, IGF2
19steroid439.1BDNF, WT1, H19, FSHB, IGF2
20estrogen438.9BDNF, WT1, FSHB, IGF2

GO Terms for genes affiliated with Wagr Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ureteric bud developmentGO:00016579.6BDNF, WT1
2camera-type eye developmentGO:00430109.6RCN1, WT1
3neurotransmitter secretionGO:00072699.6ALDH5A1, LIN7C
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.9WT1, ALX4, FSHB, PAX6, IGF2

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

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:00718379.9ALX4, PAX6

Products for genes affiliated with Wagr Syndrome

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Sources for Wagr Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet