Wagr Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Wagr Syndrome, also known as chromosome 11p deletion syndrome, is related to nephroblastoma and mental retardation syndrome. An important gene associated with Wagr Syndrome is LUZP2 (leucine zipper protein 2). The compounds nap-2 and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and ovary, and related mouse phenotypes are craniofacial and renal/urinary system.

Disease Ontology: 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.⁶

Genetics Home Reference: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, more commonly known by the acronym WAGR syndrome, is a condition that affects the development of many body systems.¹⁷

Wikipedia: WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms...⁴⁴ more...

Aliases & Descriptions:

wagr syndrome 6 7 30 17 8 32 43 chromosome 11p deletion syndrome 30 43 11p deletion syndrome 30 17 wagr complex 30 17 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 17 wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 33

wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome 30 wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome 6 wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome 30 11p partial monosomy syndrome (disorder) 6 11p partial monosomy syndrome 17 nephroblastoma 43

Diseases related to wagr syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 96)

id	Related Disease	Score	Top Affiliating Genes
1	nephroblastoma	33.3	WT1, FSHB, MPPED2, PAX6, IGF2
2	mental retardation syndrome	32.5	MPPED1, MPPED2, WT1
3	hernia	28.9	IGF2, PAX6, WT1, H19
4	succinic semialdehyde dehydrogenase deficiency	28.8	WT1, ALDH5A1
5	obesity	28.0	ALDH5A1, LIN7C, PAX6, BDNF, IGF2, WT1
6	aniridia	27.8	LUZP2, PRRG4, WT1, PAX6, BDNF, MPPED1
7	wilms tumor	26.3	H19, WT1, PAX6, BDNF, MPPED1, MPPED2
8	mesoblastic nephroma	13.0	IGF2, WT1
9	congenital mesoblastic nephroma	13.0	IGF2, WT1
10	paranoid schizophrenia	13.0	PAX6, ALDH5A1
11	kidney clear cell sarcoma	13.0	IGF2, WT1
12	rhabdoid tumors	12.9	WT1, IGF2
13	silver-russell syndrome	12.8	H19, IGF2
14	embryonal cancer	12.8	H19, IGF2
15	was-related disorders	12.7	PAX6, WT1, BDNF
16	growth disorders	12.7	IGF2, H19
17	spastic paraplegia 17	12.6	IGF2, H19
18	hemihypertrophy	12.5	H19, IGF2, WT1
19	orbit embryonal rhabdomyosarcoma	12.5	WT1, IGF2, H19
20	beckwith-wiedemann syndrome	12.5	IGF2, H19, WT1
21	myopia 6	12.3	BDNF, IGF2, PAX6
22	gigantism	12.3	WT1, H19, IGF2
23	intellectual disability	12.3	PAX6, WT1, BDNF, ALDH5A1, ALX4
24	premature ovarian failure	12.2	IGF2, FSHB, H19
25	myeloproliferative disorder	12.2	WT1, H19, IGF2
26	testicular germ cell tumor	12.2	IGF2, WT1, H19
27	gestational trophoblastic neoplasm	12.1	IGF2, H19
28	medulloblastoma	12.0	H19, BDNF, IGF2, PAX6, WT1
29	twinning	11.5	H19, WT1, IGF2, BDNF, PAX6, FSHB
30	chromosome 16p13.3 deletion syndrome	8.4
31	chromosome 18p deletion syndrome	8.4
32	chromosome 1p36 deletion syndrome	8.4
33	cri-du-chat syndrome	7.5
34	1p36 deletion syndrome	7.5
35	chromosome 9p deletion	7.5
36	chromosome 19p13.13 deletion syndrome	7.5
37	smith-magenis syndrome	7.5
38	wolf-hirschhorn syndrome	7.5
39	chromosome 3p deletion	7.2
40	chromosome 6pter-p24 deletion syndrome	7.2
41	chromosome 2p16.1-p15 deletion syndrome	7.2
42	wilms tumor-aniridia-genital anomalies-retardation syndrome	7.0
43	10p13-p14 deletion syndrome	6.7
44	11p15-p14 deletion syndrome	6.7
45	2p16.1-p15 deletion syndrome	6.7
46	chromosome 1p32-p31 deletion syndrome	6.7
47	chromosome 2p12-p11.2 deletion syndrome	6.7
48	chromosome 11p15-p14 deletion syndrome	6.7
49	chromosome 16p12.2-p11.2 deletion syndrome	6.7
50	postaxial acrofacial dysostosis	6.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to wagr syndrome:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Kidney -> Metanephric Mesenchyme -> Metanephric Mesenchyme Cells	Affected by disease

MGI Mouse Phenotypes related to wagr syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.6	PAX6, BDNF, IGF2, ALX4, H19
2	renal/urinary system phenotype	MP:0005367	8.4	LIN7C, PAX6, IGF2, ALDH5A1, WT1, H19
3	respiratory system phenotype	MP:0005388	8.3	WT1, ALX4, IGF2, BDNF, PAX6, LIN7C
4	normal phenotype	MP:0002873	8.3	H19, LUZP2, WT1, ALX4, BDNF, PAX6
5	growth/size phenotype	MP:0005378	7.5	H19, WT1, ALX4, ALDH5A1, IGF2, BDNF
6	homeostasis/metabolism phenotype	MP:0005376	7.2	H19, WT1, ALDH5A1, IGF2, FSHB, BDNF

Articles related to wagr syndrome:

(show all 17)

id	Title	Authors	Year	Affiliating Genes
1	Unique utilization of a phosphoprotein phosphatase fo ld by a mammalian phosphodiesterase associated with WAGR syndrome. (21824479)	Dermol U.... Podobnik M.	2011	MPPED2
2	Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. (19004815)	Tyagi R.... Visweswariah S.S.	2009	MPPED1, MPPED2
3	Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. (19096215)	Xu S.... Fan Y.S.	2008	BDNF, WT1, PAX6
4	Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (18753648)	Han J.C.... Yanovski J.A.	2008	BDNF, WT1, PAX6
5	Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. (18293378)	Uccini S.... Dominici C.	2008	WT1
6	Multicystic renal tumor in a patient with WAGR syndrome (17295033)	Braun K.P.... Hoschke B.	2007	WT1
7	Complete sex reversal in a WAGR syndrome patient. (17935232)	Le Caignec C.... Rival J.M.	2007	WT1, PAX6
8	Association between WAGR syndrome and diaphragmatic hernia (17194330)	MartA-n Campagne E.... Tovar Larrucea J.A.	2006	WT1
9	Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. (16545979)	Jung R.... Knerr I.	2006	ALDH5A1, WT1
10	Congenital diaphragmatic hernia in WAGR syndrome. (15779010)	Scott D.A.... Cheung S.W.	2005	WT1, PAX6
11	Renal pathology in WAGR syndrome. (9025899)	Ariel I.... Hochberg A.	1996	IGF2, H19
12	WAGR syndrome and multiple exostoses in a patient wit h del(11)(p11.2p14.2). (8558565)	McGaughran J.M.... Evans D.G.	1995	ALX4
13	Parental origin of WT1 mutations and mental retardation in WAGR syndrome. (7987386)	Huff V.	1994	WT1
14	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)	Rosier M.F.... Devignes M.D.	1994	BDNF, PAX6
15	Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. (8396067)	Santos A.... Cowell J.	1993	WT1
16	Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. (7687865)	Gessler M.... Bruns G.	1993	WT1
17	Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. (1331933)	Baird P.N.... Cowell J.K.	1992	WT1

Genes related to wagr syndrome according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	LUZP2	leucine zipper protein 2	11.0	Summaries
2	PAX6	paired box 6	11.0	Publications
3	WT1	Wilms tumor 1	11.0	Publications
4	BDNF	brain-derived neurotrophic factor	11.0	Publications
5	PRRG4	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	11.0	Disorders, Publications
6	RCN1	reticulocalbin 1, EF-hand calcium binding domain	11.0	Functions
7	LIN7C	lin-7 homolog C (C. elegans)	11.0
8	ALDH5A1	aldehyde dehydrogenase 5 family, member A1	11.0	Publications
9	H19	H19, imprinted maternally expressed transcript (non-protein coding)	11.0	Publications
10	ALX4	ALX homeobox 4	11.0	Publications
11	FSHB	follicle stimulating hormone, beta polypeptide	11.0
12	MPPED1	metallophosphoesterase domain containing 1	11.0	Publications
13	MPPED2	metallophosphoesterase domain containing 2	11.0	Publications
14	IGF2	insulin-like growth factor 2 (somatomedin A)	11.0	Publications

Compounds related to wagr syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	nap-232	9.7	IGF2, H19
2	hpaii32	9.7	WT1, H19
3	apai32	9.6	IGF2, H19
4	rsai32	9.5	IGF2, H19
5	acth32	8.9	BDNF, FSHB, IGF2, H19
6	ribonucleic acid32	8.9	H19, WT1, IGF2, FSHB
7	thymidine32 18	9.7	H19, WT1, IGF2, BDNF
8	steroid32	8.5	H19, WT1, IGF2, FSHB, BDNF

Biological processes related to wagr syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	camera-type eye development	GO:043010	9.9	RCN1, WT1

Molecular functions related to wagr syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	HMG box domain binding	GO:071837	9.8	PAX6, ALX4