MeSH Browser

MeSH Supplementary: Papillorenal syndrome
Unique ID: C537168
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537168
Entry Term(s): Coloboma of optic nerve with renal disease; Coloboma-Ureteral-Renal Syndrome; Optic Nerve Coloboma Renal Syndrome; Optic coloboma, vesicoureteral reflux, and renal anomalies; Optic nerve coloboma with renal disease; Renal Coloboma Syndrome; Renal Hypoplasia, Isolated; Renal-Coloboma Syndrome With Macular Abnormalities; Renal-coloboma syndrome
Heading Mapped to: *Coloboma; *Vesico-Ureteral Reflux; *Renal Insufficiency
Frequency: 37
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/27

Papillorenal syndrome MeSH Supplementary Concept Data 2024