Phenotypes associated with the disease polycystic kidney disease 9, susceptibility to (OMIM:621164):
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 2/73. (PMID:38404363;PMID:34890546)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 31/56. (PMID:34890546)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/3. (PMID:38404363)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 15/56. (PMID:34890546)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 1/3. (PMID:38404363)
- Stage 2 chronic kidney disease (HP:0012624): A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). Evidence: PCS. Frequency: 27/73. (PMID:38404363;PMID:34890546)
- Stage 3 chronic kidney disease (HP:0012625): A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). Evidence: PCS. Frequency: 29/73. (PMID:38404363;PMID:34890546)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/66. (PMID:34890546)
- Stage 4 chronic kidney disease (HP:0012626): A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). Evidence: PCS. Frequency: 1/64. (PMID:34890546)
- Renal artery aneurysm (HP:0033261): Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. Evidence: PCS. Frequency: 1/3. (PMID:38404363)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 10/56. (PMID:34890546)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 47/73. (PMID:38404363;PMID:34890546)
- Hepatic cysts (HP:0001407). Evidence: PCS. Frequency: 11/70. (PMID:38404363;PMID:34890546)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: PCS. Frequency: 65/66. (PMID:34890546)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: PCS. Frequency: 9/11. (PMID:38404363)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 0/3. (PMID:38404363)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 2/11. (PMID:38404363)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 0/4. (PMID:38404363)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:34890546)