MCID: WGR001
MIFTS: 50

Wagr Syndrome malady

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

Summaries for Wagr Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 wilms tumor, and has symptoms including generalized obesity, scoliosis and intellectual deficit/mental/psychomotor retardation/learning disability. 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 ovary, brain 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:64 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

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 9diseasecard, 47OMIM, 35MeSH, 57SNOMED-CT, 40NCIt, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Nephrological, Reproductive, Endocrine, Neuronal


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 61
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 9 47
chromosome 11p deletion syndrome 43 61
11p partial monosomy syndrome 8 21
11p deletion syndrome 43 21
deletion 11p13 49 61
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-mental retardation syndrome 8
wilms tumor - aniridia - genitourinary anomalies - intellectual deficit 49
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-CT57 4135001
UMLS via Orphanet62 C2931803, C0206115
MESH via Orphanet36 C538295, D017624
ICD10 via Orphanet26 Q87.8

Related Diseases for Wagr Syndrome

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.4BDNF, WT1, MPPED2, FSHB, PAX6
2wilms tumor30.4BDNF, H19, WT1, IGF2, PAX6
3mental retardation30.2BDNF, WT1, PAX6, ALDH5A1
4succinic semialdehyde dehydrogenase deficiency30.0ALDH5A1
5aniridia mental retardation syndrome10.6
6wagro syndrome10.5
7potocki-shaffer syndrome10.4
8n syndrome10.3
9char syndrome10.3
10polydactyly10.2
11chromosome 11p deletion10.2
12kid syndrome10.2
13oculocerebrorenal syndrome10.2
14chondrodysplasia punctata syndrome10.2
15genee-wiedemann syndrome10.2
16chondrodysplasia punctata, toriello type10.2
17mills syndrome10.2
18gonadoblastoma10.1
19dopamine beta-hydroxylase deficiency10.1
2011-beta-hydroxylase deficiency10.1
21crohn's disease10.0
22focal segmental glomerulosclerosis10.0
23hypospadias10.0
24morbid obesity10.0
25focal glomerulosclerosis10.0
26congenital diaphragmatic hernia10.0
27micro syndrome10.0
28wilms tumor-aniridia-genital anomalies-retardation syndrome10.0
29intellectual disability10.0PAX6
30infertility10.0FSHB
31nephroblastoma10.0PAX6, WT1
32hypogonadism10.0FSHB
33myopia 610.0PAX6
34gigantism10.0H19
35medulloblastoma10.0IGF2, PAX6
36mesoblastic nephroma10.0IGF2, WT1
37clear cell sarcoma10.0IGF2, WT1
38silver-russell syndrome10.0H19, IGF2
39embryonal cancer10.0IGF2, H19
40hypoglycemia10.0IGF2, BDNF
41omphalocele10.0IGF2
42hemihypertrophy10.0IGF2, WT1, H19
43embryonal rhabdomyosarcoma10.0IGF2, WT1, H19
44gestational trophoblastic neoplasm10.0IGF2, H19
45beckwith-wiedemann syndrome10.0IGF2, WT1, H19

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



Diseases related to wagr syndrome

Clinical Features for Wagr Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

194072,612469

Symptoms:

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

Drugs & Therapeutics for Wagr Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Wagr Syndrome

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

33
Ovary, Brain, Kidney, T cells, Fetal 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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Wagr Syndrome

Sources:
51PubMed
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Articles related to Wagr Syndrome:

(show all 43)
idTitleAuthorsYear
1
The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. (23266638)
2013
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
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. (17533022)
2007
19
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. (16545979)
2006
20
Association between WAGR syndrome and diaphragmatic hernia]. (17194330)
2006
21
WAGR syndrome: a clinical review of 54 cases. (16199712)
2005
22
Congenital diaphragmatic hernia in WAGR syndrome. (15779010)
2005
23
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. (15779023)
2005
24
Bilateral preaxial polydactyly in a WAGR syndrome patient. (15742368)
2005
25
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. (15354948)
2004
26
WAGR syndrome with deletion of chromosome 11p11.2-13. (15314606)
2004
27
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. (12702167)
2003
28
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. (12150218)
2002
29
Morbid obesity and hyperphagia in the WAGR syndrome. (11822711)
2002
30
Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). (11807873)
2002
31
WAGR syndrome in a baby--the result of 6-MP treatment in a father affected by Crohn's disease? (11197266)
2001
32
Anaesthetic management for a patient with WAGR syndrome. (11766686)
2001
33
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. (11735802)
2001
34
Obesity and WAGR syndrome. (10649802)
2000
35
Renal pathology in WAGR syndrome. (9025899)
1996
36
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). (8558565)
1995
37
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. (7987386)
1994
38
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
39
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. (7687865)
1993
40
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. (8396067)
1993
41
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. (1331933)
1992
42
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
43
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

Expression for genes affiliated with Wagr Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wagr Syndrome

Search GEO for disease gene expression data for Wagr Syndrome.

Pathways for genes affiliated with Wagr Syndrome

Sources:
38NCBI BioSystems Database
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Pathways related to Wagr Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Wagr Syndrome

Sources:
45Novoseek, 24HMDB
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Compounds related to Wagr Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-24510.0IGF2, H19
2hpaii459.9WT1, H19
3apai459.9IGF2, H19
4rsai459.8IGF2, H19
5acth459.4FSHB, IGF2, H19, BDNF
6ribonucleic acid459.4H19, WT1, IGF2, FSHB
7thymidine45 2410.1BDNF, H19, WT1, IGF2
8steroid459.0BDNF, H19, WT1, IGF2, FSHB
9retinoic acid45 249.7PAX6, IGF2, WT1, H19, BDNF

GO Terms for genes affiliated with Wagr Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wagr Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet