Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Papillorenal syndrome MeSH Supplementary Concept Data 2025


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
Registry Numbers
0
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 Preferred
Renal Hypoplasia, Isolated Related
page delivered in 0.003s