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oligomeganephronia
Epidemiology: rare
Genetics:
- defects in PAX2 may be responsible for isolated renal hypoplasia in oligomeganephronia
- usually sporadic
Clinical manifestations:
- bilateral renal hypoplasia
- dimininished number of enlarged nephrons
- no other urinary tract abnormalities
General
genetic disease of the kidney
congenital anomaly (birth defect)
References
UniProt :accession Q02962