bilateral renal agenesis
Findings
No curated finding names bilateral renal agenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Definition from the Mondo Disease Ontology (MONDO:0015986), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Nonketotic hypoglycemiaHPOHP:0001958
- Very frequent (80% to 99% of cases)
- OligohydramniosHPOHP:0001562
- Very frequent (80% to 99% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Very frequent (80% to 99% of cases)
- Renal agenesisHPOHP:0000104
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal intestine morphologyHPOHP:0002242
- Frequent (30% to 79% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
- Frequent (30% to 79% of cases)
- Fetal polyuriaHPOHP:0001563
- Frequent (30% to 79% of cases)
Show the remaining 6
- Tracheoesophageal fistulaHPOHP:0002575
- Frequent (30% to 79% of cases)
- Urogenital fistulaHPOHP:0100589
- Frequent (30% to 79% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Occasional (5% to 29% of cases)
- SirenomeliaHPOHP:0010497
- Occasional (5% to 29% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: bilateral renal agenesis
- Also called
- Renal Agenesis, Bilateral