MCID: WGR001
MIFTS: 60

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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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 based summary: Wagr Syndrome, also known as 11p partial monosomy syndrome, is related to succinic semialdehyde dehydrogenase deficiency and mental retardation, and has symptoms including aniridia/iris hypoplasia, intellectual deficit/mental/psychomotor retardation/learning disability and microcephaly. 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...

Descriptions from OMIM:46 194072,612469

Aliases & Classifications for Wagr Syndrome

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 9diseasecard, 46OMIM, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Wagr Syndrome, Aliases & Descriptions:

Name: Wagr Syndrome 30 8 42 21 10 44 48 62
11p Partial Monosomy Syndrome 8 21 62
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 9 46
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 8 62
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome 42 62
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 21 62
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome 21 62
Chromosome 11p Deletion Syndrome 42 62
11p Deletion Syndrome 42 21
 
Deletion 11p13 48 62
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 - Intellectual Disability 48
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation 9
Contiguous Gene Syndrome, Wagr 62
Wagr Contiguous Gene Syndrome 21
Monosomy 11p13 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14515
MeSH34 D017624
NCIt39 C3718
SNOMED-CT57 4135001
MESH via Orphanet35 C538295, D017624
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 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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Clinical features from OMIM:

194072,612469

Symptoms:

48 (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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Genetic Tests for Wagr Syndrome

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Anatomical Context for Wagr Syndrome

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MalaCards organs/tissues related to Wagr Syndrome:

32
Eye, Testes, Kidney, Ovary, Brain, 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

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MGI Mouse Phenotypes related to Wagr Syndrome:

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

Publications for Wagr Syndrome

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Articles related to Wagr Syndrome:

(show all 38)
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
Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome. (21824479)
2011
4
Billateral polycystic kidneys in a girl with WAGR syndrome. (21660403)
2011
5
Clinical utility gene card for: WAGR syndrome. (21224893)
2011
6
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
7
WAGR syndrome--a case report. (20405644)
2009
8
Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. (19004815)
2009
9
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (18753648)
2008
10
Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. (18293378)
2008
11
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. (19096215)
2008
12
WAGR syndrome: is the 'R' always justified? (17159522)
2007
13
Multicystic renal tumor in a patient with WAGR syndrome]. (17295033)
2007
14
WAGR syndrome--a case report. (17899969)
2007
15
Complete sex reversal in a WAGR syndrome patient. (17935232)
2007
16
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. (16545979)
2006
17
Association between WAGR syndrome and diaphragmatic hernia]. (17194330)
2006
18
WAGR syndrome: a clinical review of 54 cases. (16199712)
2005
19
Congenital diaphragmatic hernia in WAGR syndrome. (15779010)
2005
20
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. (15779023)
2005
21
Bilateral preaxial polydactyly in a WAGR syndrome patient. (15742368)
2005
22
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. (15354948)
2004
23
WAGR syndrome with deletion of chromosome 11p11.2-13. (15314606)
2004
24
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. (12702167)
2003
25
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. (12150218)
2002
26
Morbid obesity and hyperphagia in the WAGR syndrome. (11822711)
2002
27
Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). (11807873)
2002
28
WAGR syndrome in a baby--the result of 6-MP treatment in a father affected by Crohn's disease? (11197266)
2001
29
Anaesthetic management for a patient with WAGR syndrome. (11766686)
2001
30
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. (11735802)
2001
31
Obesity and WAGR syndrome. (10649802)
2000
32
Renal pathology in WAGR syndrome. (9025899)
1996
33
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). (8558565)
1995
34
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. (7987386)
1994
35
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
36
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. (7687865)
1993
37
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. (8396067)
1993
38
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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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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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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Sources:
44Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
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Compounds related to Wagr Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1hpaii4410.1WT1, H19
2nap-24410.0IGF2, H19
3apai4410.0IGF2, H19
4deoxyribonucleic acid449.9WT1, FSHB
5rsai449.9H19, IGF2
6gnrh449.6IGF2, BDNF, FSHB
7agar449.5H19, IGF2, BDNF
8thymidine44 2410.4WT1, H19, IGF2, BDNF
9ribonucleic acid449.4H19, IGF2, WT1, FSHB
10testosterone44 61 24 1112.4FSHB, IGF2, WT1, BDNF
11acth449.4BDNF, H19, FSHB, IGF2
12vegf449.3PAX6, BDNF, IGF2, WT1
13arginine449.2IGF2, WT1, PAX6, ALDH5A1
14retinoic acid44 2410.1BDNF, WT1, PAX6, H19, IGF2
15steroid449.1BDNF, WT1, H19, FSHB, IGF2
16zinc44 2410.1WT1, IGF2, H19, BDNF
17glutamate448.9IGF2, PAX6, ALDH5A1, BDNF

GO Terms for genes affiliated with Wagr Syndrome

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Biological processes related to Wagr Syndrome according to GeneCards/GeneDecks:

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet