Human genes for Fabry disease
Fabry disease [DOID:14499]
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.
Synonyms: Fabry disease, DOID:14499, Fabry disorder, Fabry syndrome, Alpha-galactosidase A deficiency ...