Phenotypes associated with the disease polycystic kidney disease 4 (OMIM:263200):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/16. (PMID:11919560)
- 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: 2/16. (PMID:11919560)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:263200)
- Tubulointerstitial fibrosis (HP:0005576): A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. Evidence: IEA. (OMIM:263200)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 1/16. (PMID:11919560)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:263200)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 13/16. (PMID:11919560)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:263200)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/16. (PMID:11919560)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 2/16. (PMID:11919560)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: IEA. (OMIM:263200)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/16. (PMID:11919560)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/16. (PMID:11919560)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 9/16. (PMID:11919560)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:263200)
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: IEA. (OMIM:263200)
- Hepatic cysts (HP:0001407). Evidence: IEA. (OMIM:263200)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. (OMIM:263200)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 3/16. (PMID:11919560)
- Multiple small medullary renal cysts (HP:0008659): The presence of many cysts in the medulla of the kidney. Evidence: PCS. Frequency: 1/16. (PMID:11919560)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/16. (PMID:11919560)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:263200)
- Absence of renal corticomedullary differentiation (HP:0005564): A lack of differentiation between renal cortex and medulla on diagnostic imaging. Evidence: IEA. (OMIM:263200)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 12/16. (PMID:11919560)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 15/16. (PMID:11919560)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11919560)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: IEA. (OMIM:263200)
- Potter facies (HP:0002009): A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. Evidence: IEA. (OMIM:263200)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:263200)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. (PMID:11919560)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: PCS. Frequency: 2/16. (PMID:11919560)