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Papillorenal syndrome [Supplementary Concept]

A hereditary autosomal dominant disorder characterized by both ocular abnormalities including coloboma and renal anomalies such as renal hypoplasia, insufficiency and vesicoureteral reflux. Less common findings include HIGH FREQUENCY HEARING LOSS, central nervous system anomalies, soft skin, ligamentous laxity, and/or genital anomalies. The disorder shows wide inter- and intrafamilial variability and is caused by mutations in the PAX2 gene. OMIM: 120330

Date introduced: August 25, 2010

MeSH Unique ID: C537168

Heading Mapped to:

Entry Terms:

  • Optic nerve coloboma with renal disease
  • Optic coloboma, vesicoureteral reflux, and renal anomalies
  • Optic Nerve Coloboma Renal Syndrome
  • Renal-Coloboma Syndrome With Macular Abnormalities
  • Renal Coloboma Syndrome
  • Coloboma-Ureteral-Renal Syndrome
  • Renal-coloboma syndrome
  • Coloboma of optic nerve with renal disease
  • Renal Hypoplasia, Isolated

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