MCID: WGR001
MIFTS: 59

Wagr Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases categories
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Summaries for Wagr Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Wagr Syndrome, also known as wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, is related to aniridia and mental retardation, and has symptoms including glaucoma, scoliosis and inguinal/inguinoscrotal/crural hernia. An important gene associated with Wagr Syndrome is DEL11P13 (Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome), 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:8 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:65 WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms... more...

Description from OMIM:47 194072,612469

Aliases & Classifications for Wagr Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
wagr syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

wagr syndrome 8 43 21 10 45 49 62
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 9 47
chromosome 11p deletion syndrome 43 62
11p partial monosomy syndrome 8 21
11p deletion syndrome 43 21
deletion 11p13 49 62
wagr complex 43 21
wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 21
wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome 43
wilms tumor - aniridia - genitourinary anomalies - intellectual disability 49
wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome 8
wilms tumor, aniridia, genitourinary anomalies, mental retardation 9
wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome 43
wilms tumor-aniridia-genital anomalies-retardation syndrome 21
wilms tumor-aniridia-genitourinary anomalies-mr syndrome 21
wagr contiguous gene syndrome 21
monosomy 11p13 49


External Ids:

Disease Ontology8 DOID:14515
MeSH35 D017624
NCIt40 C3718
SNOMED-CT58 4135001
UMLS via Orphanet63 C2931803, C0206115
MESH via Orphanet36 C538295, D017624
ICD10 via Orphanet26 Q87.8

Related Diseases for Wagr Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Clinical features from OMIM:

194072,612469

Symptoms:

49 (show all 18)
  • glaucoma
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • ambiguous genitalia
  • generalized obesity
  • short stature/dwarfism/nanism
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • 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
  • aniridia/iris hypoplasia

Drugs & Therapeutics for Wagr Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Genetic Tests for Wagr Syndrome

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Anatomical Context for Wagr Syndrome

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Wagr Syndrome:

33
Eye, Testes, Kidney, Ovary, Fetal brain, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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37MGI
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MGI Mouse Phenotypes related to Wagr Syndrome:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9IGF2, PAX6, ALDH5A1, ALX4, WT1
2MP:00053818.9IGF2, PAX6, H19, ALX4, BDNF
3MP:00053678.8IGF2, PAX6, LIN7C, ALDH5A1, WT1
4MP:00053888.6BDNF, IGF2, PAX6, LIN7C, ALX4, WT1
5MP:00028738.6PAX6, LIN7C, H19, ALX4, WT1, BDNF
6MP:00053808.6IGF2, PAX6, H19, ALX4, WT1
7MP:00053848.3BDNF, WT1, H19, LIN7C, PAX6, IGF2
8MP:00036318.0IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4
9MP:00053767.9IGF2, PAX6, LIN7C, FSHB, ALDH5A1, WT1
10MP:00053787.9IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4
11MP:00107687.8IGF2, PAX6, LIN7C, H19, ALDH5A1, ALX4

Publications for Wagr Syndrome

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52PubMed
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Articles related to Wagr Syndrome:

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

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Pathways for genes affiliated with Wagr Syndrome

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50PathCards, 38NCBI BioSystems Database
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Pathways related to Wagr Syndrome according to GeneCards/GeneDecks:

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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45Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
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Compounds related to Wagr Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1hpaii4510.1WT1, H19
2nap-24510.0H19, IGF2
3apai4510.0IGF2, H19
4deoxyribonucleic acid459.9WT1, FSHB
5rsai459.9H19, IGF2
6gnrh459.6BDNF, FSHB, IGF2
7agar459.5IGF2, H19, BDNF
8thymidine45 2410.4IGF2, H19, WT1, BDNF
9ribonucleic acid459.4IGF2, FSHB, H19, WT1
10testosterone45 61 24 1112.4IGF2, FSHB, WT1, BDNF
11acth459.4BDNF, H19, FSHB, IGF2
12vegf459.3BDNF, WT1, PAX6, IGF2
13arginine459.2IGF2, PAX6, ALDH5A1, WT1
14retinoic acid45 2410.1BDNF, WT1, H19, PAX6, IGF2
15steroid459.1BDNF, WT1, H19, FSHB, IGF2
16zinc45 2410.1BDNF, WT1, H19, IGF2
17glutamate458.9IGF2, PAX6, ALDH5A1, BDNF

GO Terms for genes affiliated with Wagr Syndrome

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16Gene Ontology
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Biological processes related to Wagr Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ureteric bud developmentGO:0016579.6BDNF, WT1
2camera-type eye developmentGO:0430109.6RCN1, WT1
3neurotransmitter secretionGO:0072699.6ALDH5A1, LIN7C
4positive regulation of transcription from RNA polymerase II promoterGO:0459448.9WT1, ALX4, FSHB, PAX6, IGF2

Molecular functions related to Wagr Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:0718379.9ALX4, PAX6

Products for genes affiliated with Wagr Syndrome

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Sources for Wagr Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet