Disease or Syndrome
WAGR syndrome
[ ... sin-drome ]
Subclass of:
46, XY Disorders of Sex Development;
Congenital chromosomal disease;
Intellectual Disability;
Nephroblastoma;
Aniridia
Definitions related to wagr syndrome:
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A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression...GeneReviewsUniversity of Washington, 2021
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(wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome) A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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Patients with an unusual complex of congenital developmental abnormalities, such as aniridia, genitourinary (GU) malformations, and mental retardation, are at high risk (>30%) of having a Wilms tumor. At birth, the association is aniridia, GU malformations, and mental retardation (AGR) syndrome.WebMD, 2019
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WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for W ilms tumor, A niridia, G enitourinary problems (such as undescended testicles or hypospadias in males, or internal...National Center for Advancing Translational Sciences
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