Papillorenal Syndrome (PAPRS)

Alias:

Renal Coloboma Syndrome

Coloboma of Optic Nerve with Renal Disease

Optic Nerve Coloboma with Renal Disease

Renal-Coloboma Syndrome

Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities

Renal-Coloboma Syndrome with Macular Abnormalities

Cakut with or Without Ocular Abnormalities

Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies

Papillo-Renal Syndrome

Paprs

Papillo-Renal Syndrome, Optic Nerve Coloboma with Renal Disease

Optic Coloboma, Vesicoureteral Reflux and Renal Anomalies

Optic Coloboma Vesicoureteral Reflux and Renal Anomalies

Optic Nerve Coloboma Renal Syndrome

Coloboma-Ureteral-Renal Syndrome

Oncr

Rcs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and oligomeganephronia. 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 Immune Checkpoint Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia

Related ID：

MALACARDS：PPL048

OMIM：120330

MESH：D003103