Papillorenal syndrome

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Papillorenal syndrome Classification and external resources
OMIM	120330
DiseasesDB	32086

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.^[1]

[edit] Pathophysiology

Papillorenal syndrome has an autosomal dominant pattern of inheritance.

The syndrome results from mutation of a copy of the PAX2 gene,^[1] a gene which is important in the development of both the eye and the kidney.

v • d • e Congenital malformations and deformations of genital organs and urinary system (Q50-Q64, 752-753)

Genital organs (overview)	female: Uterine malformation - Mullerian agenesis - Uterine didelphys - Clitoromegaly male: Cryptorchidism - Hypospadias - Chordee - Monorchism - Micropenis - Penile agenesis Pseudohermaphroditism

Urinary system	kidney/ureter: Renal agenesis/Potter syndrome, Papillorenal syndrome - cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney) - Ectopic ureter - Horseshoe kidney - Renal ectopia bladder/urethra: Epispadias - Bladder exstrophy urachus: Urachal cyst

See also non-congenital reproductive and urinary conditions (N, 580-629)