Papillorenal Syndrome

About the Disease
Papillorenal Syndrome, also known as renal coloboma syndrome, is related to coloboma of optic nerve and scleral staphyloma. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Nervous system development and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and retina, and related phenotypes are renal insufficiency and optic nerve dysplasia

Common Targets
PAX2 | CHD7 | SIX4 | KIF26B

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