WAGR syndrome
Medical condition / From Wikipedia, the free encyclopedia
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WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation.[1] The "G" is sometimes instead given as "gonadoblastoma", since the genitourinary anomalies can include tumours of the gonads (testes or ovaries).[2]
WAGR syndrome | |
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Specialty | Oncology, obstetrics and gynaecology, urology, endocrinology, ophthalmology, neurology, medical genetics |
Some WAGR syndrome patients show severe childhood obesity and hyperphagia, and are categorised as WAGRO (adding obesity) which may be associated with the coinciding loss of brain-derived neurotrophic factor (BDNF) a gene that is also on chromosome 11.[3][4]
The condition, first described by Miller et al. in 1964 in its association with other congenital malformations,[5] 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.[3]
It is possible for those with WAGR syndrome to develop Wilms' tumor, a rare form of kidney cancer.[6]