- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: IEA. (OMIM:174050)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:174050)
- Increased total bilirubin (HP:0003573): Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Evidence: IEA. (OMIM:174050)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 6/6. (PMID:12577059)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: IEA. (OMIM:174050)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:174050)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. (OMIM:174050)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. (OMIM:174050)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 0/6. (PMID:12577059)
- 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:12577059)
- Polycystic liver disease (HP:0006557). Evidence: PCS. Frequency: 6/6. (PMID:12577059)
These phenotypes are associated with the disease polycystic liver disease 1 (OMIM:174050).