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oligomeganephronia
Monday 12 March 2007
Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown.
Associations
distal limb deficiencies with micrognathia (MIM.246560)
Etiology
PAX2 germline mutations (11168927)
See also
paired box transcription factors (PAXs)
- PAX2
renal development
renal hypoplasia
retinal defects
renal-coloboma syndrome
References
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. PAX2 mutations in oligomeganephronia. Kidney Int. 2001 Feb;59(2):457-62. PMID: 11168927