Renal coloboma syndrome

Also known as: Papillorenal syndrome

Optic nerve coloboma with renal hypodysplasia.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: PAX2

Etiology & mechanism

PAX2 haploinsufficiency.

Gene(s) involved (1)

PAX2

Symptoms & signs (5)

hypertensionoptic disc colobomaproteinuriarenal hypoplasiavesicoureteral reflux

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