polycystic kidney disease 4
Findings
No curated finding names polycystic kidney disease 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.
Definition from the Mondo Disease Ontology (MONDO:0033004), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Middle age onset · Neonatal onset · Young adult onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Renal cystHPOHP:0000107
- 15 of 16 reported patients
- Hepatic fibrosisHPOHP:0001395
- 13 of 16 reported patients
- HypertensionHPOHP:0000822
- 12 of 16 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 9 of 16 reported patients
- SplenomegalyHPOHP:0001744
- 3 of 16 reported patients
- Esophageal varixHPOHP:0002040
- 2 of 16 reported patients
- HematemesisHPOHP:0002248
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.
- PKHD1HGNC:9016
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: polycystic kidney disease 4
- Also called
- polycystic kidney disease 4, with or without hepatic disease