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Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome(WAGRO)

MedGen UID:
382718
Concept ID:
C2675904
Disease or Syndrome
Synonyms: CHROMOSOME 11p13-p12 DELETION SYNDROME; WAGR SYNDROME WITH OBESITY; WAGRO; WAGRO SYNDROME
 
Cytogenetic location: 11p13-p12
OMIM®: 612469

Definition

For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene. [from OMIM]

Additional description

From GHR
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. Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). Another common feature of WAGR syndrome is intellectual disability (mental retardation). Affected individuals often have difficulty processing, learning, and properly responding to information. Some individuals with WAGR syndrome also have psychiatric or behavioral problems including depression, anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism that affects communication and social interaction. Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in affected males than in affected females. The most common genitourinary anomaly in affected males is undescended testes (cryptorchidism). Females may not have functional ovaries and instead have undeveloped clumps of tissue called streak gonads. Females may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term. People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Other signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.  http://ghr.nlm.nih.gov/condition/wilms-tumor-aniridia-genitourinary-anomalies-and-mental-retardation-syndrome

Recent clinical studies

Etiology

Rodríguez-López R, Pérez JM, Balsera AM, Rodríguez GG, Moreno TH, García de Cáceres M, Serrano MG, Freijo FC, Ruiz JR, Angueira FB, Pérez PM, Estévez MN, Gómez EG
Gene 2013 Mar 10;516(2):285-90. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.11.073. [Epub ahead of print] PMID: 23266638

Prognosis

Rodríguez-López R, Pérez JM, Balsera AM, Rodríguez GG, Moreno TH, García de Cáceres M, Serrano MG, Freijo FC, Ruiz JR, Angueira FB, Pérez PM, Estévez MN, Gómez EG
Gene 2013 Mar 10;516(2):285-90. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.11.073. [Epub ahead of print] PMID: 23266638

Clinical prediction guides

Rodríguez-López R, Pérez JM, Balsera AM, Rodríguez GG, Moreno TH, García de Cáceres M, Serrano MG, Freijo FC, Ruiz JR, Angueira FB, Pérez PM, Estévez MN, Gómez EG
Gene 2013 Mar 10;516(2):285-90. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.11.073. [Epub ahead of print] PMID: 23266638

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