polycystic kidney disease 5
ORPHA: 731
Overview
human disease
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 5, sourced from HPO and Orphanet clinical annotations.
Enlarged kidneyPolycystic kidney dysplasiaHypertensionHepatic fibrosisPeriportal fibrosisRenal insufficiencyCholestasisPortal hypertensionGrowth delayOligohydramniosSplenomegalyHypersplenismEsophageal varixPulmonary hypoplasiaCongenital hepatic fibrosisFat malabsorptionRespiratory failureHyponatremiaStage 5 chronic kidney diseaseReduced circulating vitamin A concentrationReduced renal corticomedullary differentiationBiliary hyperplasiaAbnormal intrahepatic bile duct morphologyDecreased circulating vitamin K concentrationFeeding difficultiesIncreased serum bile acid concentrationElevated gamma-glutamyltransferase levelDecreased circulating vitamin D concentrationDecreased circulating vitamin E concentrationRecurrent urinary tract infectionsJaundiceHepatosplenomegalyAscitesThrombocytopeniaAcute kidney injuryPolydipsiaGastrointestinal hemorrhageProtein-losing enteropathyHypoventilationHepatoblastomaRecurrent pneumoniaCholangitisOliguriaMicrognathiaLow-set earsDepressed nasal ridgePancreatic cystsSpontaneous pneumothoraxCholangiocarcinomaAbnormality of limbsCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:731polycystic kidney disease 5
| Orphanet | ORPHA:731 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO