Renal aplasia 2 is a severe form of congenital anomalies of the kidney and urinary tract (CAKUT), caused by mutations of the FSF20 gene. The inheritance pattern is recessive.
Malformations of the urinary tract | |
Malformations in renal aplasia type 2 are life threatening. |
Renal hypodysplasia/aplasia | ||||
GREB1L | ||||
Renal hypodysplasia/aplasia 1 | ||||
Renal hypodysplasia/aplasia 2 | ||||
FGF20 | ||||
1. |
Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. |
2. |
Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. |
3. |
Joss S et al. (2003) De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia. |
4. |
OMIM.ORG article Omim 615721 |