renal coloboma syndrome
Findings
No curated finding names renal coloboma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Definition from the Mondo Disease Ontology (MONDO:0007352), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- Chronic kidney diseaseHPOHP:0012622
- 4 of 4 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- Optic disc colobomaHPOHP:0000588
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Optic nerve dysplasiaHPOHP:0001093
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Renal dysplasiaHPOHP:0000110
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- 2 of 4 reported patients
- ScoliosisHPOHP:0002650
- 2 of 4 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
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.
- PAX2HGNC:8616
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: renal coloboma syndrome
- Also called
- CAKUT with or without ocular abnormalitiescoloboma of optic nerve with renal diseasecongenital anomalies of the kidney and urinary tract with or without ocular abnormalitiesPapillo-renal syndromepapillorenal syndromerenal-coloboma syndrome with macular abnormalities