autosomal recessive polycystic kidney disease
Findings
No curated finding names autosomal recessive polycystic kidney disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.
Definition from the Mondo Disease Ontology (MONDO:0009889), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Enlarged kidneyHPOHP:0000105
- Very frequent (80% to 99% of cases)
- Hepatic fibrosisHPOHP:0001395
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Periportal fibrosisHPOHP:0001405
- Very frequent (80% to 99% of cases)
- Polycystic kidney dysplasiaHPOHP:0000113
- Very frequent (80% to 99% of cases)
- Abnormal intrahepatic bile duct morphologyHPOHP:0011040
- Frequent (30% to 79% of cases)
- Biliary hyperplasiaHPOHP:0006560
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- Frequent (30% to 79% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin E concentrationHPOHP:0100513
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin K concentrationHPOHP:0011892
- Frequent (30% to 79% of cases)
Show the remaining 39
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- Frequent (30% to 79% of cases)
- Esophageal varixHPOHP:0002040
- Frequent (30% to 79% of cases)
- Fat malabsorptionHPOHP:0002630
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypersplenismHPOHP:0001971
- Frequent (30% to 79% of cases)
Genes
3 genes
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.
- DZIP1LHGNC:26551
- Definitive · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- PKD1HGNC:9008
- Definitive · ClinGen · Autosomal recessive · 2023
- PKHD1HGNC:9016
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (2)
Other names
5 names
Resolves to: autosomal recessive polycystic kidney disease
- Also called
- AR-PKDARPKDautosomal recessive polycystic kidneypolycystic kidney disease, autosomal recessivepolycystic kidney disease, infantile type