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Renal Hypodysplasia/Aplasia 3 (RHDA3)
Renal Hypodysplasia/Aplasia 3 (RHDA3)
OMIM number: 617805
Comments closing date: 13/08/2025
RHDA3 is a genetic condition characterised by
abnormal kidney development beginning in utero.
The phenotype is highly variable, even within
families, and there is evidence for incomplete
penetrance (not everyone developing features of
the condition). Some affected individuals have
bilateral renal agenesis (absent kidneys), which is
fatal in utero or in the perinatal period, whereas
others may have unilateral agenesis (absent
single kidney) that is compatible with life, or milder
manifestations, such as vesicoureteral reflux
(VUR). Female mutation carriers may also have
uterine or ovarian abnormalities, including
uterovaginal and ovarian agenesis. Renal aplasia
falls at the most severe end of the spectrum of
congenital anomalies of the kidney and urinary
tract. There have also been reported congenital
cardiac anomalies, bladder agenesis and
anomalies of the inner ear causing sensorineural
hearing loss.
Review date: 2 July 2027
