Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal hypodysplasia/aplasia 2

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.

Symptoms

Malformations of the urinary tract
Malformations in renal aplasia type 2 are life threatening.

Systematic

Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
Renal hypodysplasia/aplasia 2
FGF20

References:

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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3.

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 [^]
Update: April 29, 2019