polycystic kidney disease 2
ORPHA: 730
Overview
autosomal dominant polycystic kidney disease that has material basis in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with polycystic kidney disease 2, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyRenal cystHepatic cystsElevated circulating creatinine concentrationDecreased glomerular filtration rateHematuriaHypertensionStage 5 chronic kidney diseaseAbnormal urinary electrolyte concentrationAlbuminuriaChronic kidney diseaseFlank painRecurrent urinary tract infectionsEnlarged kidneyUric acid nephrolithiasisMitral valve prolapsePancreatic cystsAortic root aneurysmDilatation of the cerebral arteryPolycystic liver diseaseCalcium oxalate nephrolithiasisAbnormal systemic arterial morphologyReduced sperm motilityPyelonephritisArachnoid cystPituitary growth hormone cell adenoma
Classification & Codes
Orphanet Code
ORPHA:730polycystic kidney disease 2
| Orphanet | ORPHA:730 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO