MCID: WGR001
MIFTS: 56

Wagr Syndrome malady

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

Summaries for Wagr Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 succinic semialdehyde dehydrogenase deficiency, 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 is FSH signaling pathway. The compounds nap-2 and hpaii have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and kidney, and related mouse phenotypes are muscle and craniofacial.

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

Description from OMIM:46 194072,612469

Aliases & Classifications for Wagr Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 34MeSH, 56SNOMED-CT, 39NCIt, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
wagr syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

wagr syndrome 8 42 21 10 44 48 60
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 9 46
chromosome 11p deletion syndrome 42 60
11p partial monosomy syndrome 8 21
11p deletion syndrome 42 21
deletion 11p13 48 60
wagr complex 42 21
wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 21
wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome 42
wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome 8
wilms tumor - aniridia - genitourinary anomalies - intellectual deficit 48
wilms tumor, aniridia, genitourinary anomalies, mental retardation 9
wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome 42
wilms tumor-aniridia-genital anomalies-retardation syndrome 21
wilms tumor-aniridia-genitourinary anomalies-mr syndrome 21
wagr contiguous gene syndrome 21
monosomy 11p13 48


External Ids:

Disease Ontology8 DOID:14515
MeSH34 D017624
NCIt39 C3718
SNOMED-CT56 4135001
UMLS via Orphanet61 C2931803, C0206115
MESH via Orphanet35 C538295, D017624
ICD10 via Orphanet26 Q87.8

Related Diseases for Wagr Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Wagr Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.4PAX6, MPPED2, FSHB, WT1, BDNF
2succinic semialdehyde dehydrogenase deficiency30.0ALDH5A1
3wagro syndrome10.5
4obesity10.4
5potocki-shaffer syndrome10.4
6polydactyly10.2
7oculocerebrorenal syndrome10.1
8chondrodysplasia punctata syndrome10.1
9genee-wiedemann syndrome10.1
10chondrodysplasia punctata, toriello type10.1
11mills syndrome10.1
12gonadoblastoma10.1
13dopamine beta-hydroxylase deficiency10.1
14crohn's disease10.0
15focal segmental glomerulosclerosis10.0
16hypospadias10.0
17tetralogy of fallot10.0
18morbid obesity10.0
19down syndrome10.0
20focal glomerulosclerosis10.0
21congenital diaphragmatic hernia10.0
22hydrocephalus10.0
23pancreatitis10.0
24wilms tumor-aniridia-genital anomalies-retardation syndrome10.0
25intellectual disability10.0PAX6
26infertility10.0FSHB
27nephroblastoma10.0WT1, PAX6
28hypogonadism10.0FSHB
29myopia 610.0PAX6
30gigantism10.0H19
31growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF2
32mental retardation10.0BDNF, WT1, PAX6, ALDH5A1
33medulloblastoma10.0PAX6, IGF2
34mesoblastic nephroma10.0IGF2, WT1
35clear cell sarcoma10.0IGF2, WT1
36silver-russell syndrome10.0H19, IGF2
37embryonal cancer10.0IGF2, H19
38hypoglycemia10.0BDNF, IGF2
39omphalocele10.0IGF2
40hemihypertrophy10.0IGF2, WT1, H19
41embryonal rhabdomyosarcoma10.0H19, WT1, IGF2
42gestational trophoblastic neoplasm10.0H19, IGF2
43beckwith-wiedemann syndrome10.0H19, WT1, IGF2
44wilms tumor10.0BDNF, WT1, IGF2, PAX6, H19

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



Diseases related to wagr syndrome

Clinical Features for Wagr Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

194072,612469

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Wagr Syndrome

Genetic Tests for Wagr Syndrome

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Anatomical Context for Wagr Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Wagr Syndrome:

32
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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36MGI
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MGI Mouse Phenotypes related to Wagr Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6H19, WT1, IGF2, PAX6, ALX4, ALDH5A1
2MP:00053828.6BDNF, H19, IGF2, PAX6, ALX4
3MP:00053888.5BDNF, WT1, LIN7C, IGF2, PAX6, ALX4
4MP:00053678.5H19, WT1, LIN7C, IGF2, PAX6, ALDH5A1
5MP:00028738.2ALX4, BDNF, H19, WT1, LUZP2, LIN7C
6MP:00053767.8H19, WT1, LIN7C, IGF2, FSHB, PAX6
7MP:00053787.6BDNF, H19, WT1, LIN7C, IGF2, PAX6

Publications for Wagr Syndrome

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50PubMed
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Articles related to Wagr Syndrome:

(show all 42)
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
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. (17533022)
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
The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome. (2176177)
1990
42
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. (2574149)
1989

Genetic Variations for Wagr Syndrome

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Expression for genes affiliated with Wagr Syndrome

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1BioGPS, 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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37NCBI BioSystems Database
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Pathways related to Wagr Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FSHB, BDNF

Compounds for genes affiliated with Wagr Syndrome

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44Novoseek, 24HMDB
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Compounds related to Wagr Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-24410.0IGF2, H19
2hpaii449.9WT1, H19
3apai449.9IGF2, H19
4rsai449.8IGF2, H19
5acth449.4FSHB, IGF2, H19, BDNF
6ribonucleic acid449.4H19, WT1, IGF2, FSHB
7thymidine44 2410.1BDNF, H19, WT1, IGF2
8steroid449.0BDNF, H19, WT1, IGF2, FSHB
9retinoic acid44 249.7PAX6, IGF2, WT1, H19, BDNF

GO Terms for genes affiliated with Wagr Syndrome

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16Gene Ontology
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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet