renal dysplasia
Findings
No curated finding names renal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0019638), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Abnormal nephron morphologyHPOHP:0012575
- Frequent (30% to 79% of cases)
- Abnormal renal calyx morphologyHPOHP:0011130
- Frequent (30% to 79% of cases)
- Abnormal renal tubule morphologyHPOHP:0000091
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Functional abnormality of the bladderHPOHP:0000009
- Frequent (30% to 79% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Frequent (30% to 79% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Frequent (30% to 79% of cases)
- Abdominal massHPOHP:0031500
- Occasional (5% to 29% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Enlarged kidneyHPOHP:0000105
- Occasional (5% to 29% of cases)
- Flank painHPOHP:0030157
- Occasional (5% to 29% of cases)
- HydronephrosisHPOHP:0000126
- Occasional (5% to 29% of cases)
Show the remaining 16
- HydroureterHPOHP:0000072
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- Moderate proteinuriaHPOHP:0012596
- Occasional (5% to 29% of cases)
- OligohydramniosHPOHP:0001562
- Occasional (5% to 29% of cases)
- Pelvic massHPOHP:0031501
- Occasional (5% to 29% of cases)
- PyelonephritisHPOHP:0012330
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- UPK3AHGNC:12580
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: renal dysplasia
- Also called
- renal dysplasia (disease)