|Name||Renal agenesis and Renal adysplasia|
|Description||Renal agenesis and renal adysplasia are congenital defects of kidney development. Renal agenesis can be unilateral/bilateral with no kidneys or very little kidney present. Renal adysplasia is a condition in which kidneys begin to form but contain undifferentiated tissues. Sometimes the hypoplastic tissues regress. These diseases can lead to childhood end-stage renal failure.|
|Gene||UPK3A [HSA:7380] [KO:K19520]
RET [HSA:5979] [KO:K05126]
|Other DBs||ICD-10: Q60.1
MeSH: C536482 C563261
|Reference||PMID:15888565 (description, gene)
Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
J Am Soc Nephrol 16:2141-9 (2005)
PMID:16731295 (description, gene)
Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
Am J Kidney Dis 47:1004-12 (2006)
PMID:20539737 (description, gene)
The many faces of RET dysfunction in kidney.
Organogenesis 5:177-90 (2009)
PMID:18252215 (description, gene)
Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ
Renal aplasia in humans is associated with RET mutations.
Am J Hum Genet 82:344-51 (2008)