Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 | |
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Malformations in renal aplasia type 2 are life threatening. |
Renal hypodysplasia/aplasia
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GREB1L
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Renal hypodysplasia/aplasia 1
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Renal hypodysplasia/aplasia 2
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FGF20
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| 1. |
Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. 
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| 2. |
Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
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Joss S et al. (2003) De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.
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| 4. |
OMIM.ORG article Omim 615721
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