Graham-Boyle-Troxell syndrome
Findings
No curated finding names Graham-Boyle-Troxell syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
Definition from the Mondo Disease Ontology (MONDO:0023275), read 2026-09-29. CC BY 4.0.
Features
5 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.
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- Pulmonary fibrosisHPOHP:0002206
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Graham-Boyle-Troxell syndrome
- Also called
- cystic hamartoma of lung and kidneygraham Boyle Troxell syndrome