Papillorenal syndrome

Papillorenal syndrome
OMIM	120330
DiseasesDB	32086

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Papillorenal syndrome, also called Renal-coloboma syndrome, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.

Pathophysiology

Papillorenal syndrome has an autosomal dominant pattern of inheritance.

The syndrome results from mutation of a copy of the PAX2 gene, a gene which is important in the development of both the eye and the kidney.