- 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: 1/6. (PMID:33185949;PMID:27392076)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:27392076)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/4. (PMID:33185949;PMID:27392076)
- Renal sodium wasting (HP:0012606): An abnormally increased sodium concentration in the urine in the presence of hyponatremia. Evidence: PCS. Frequency: 0/2. (PMID:33185949;PMID:27392076)
- Thickening of the tubular basement membrane (HP:0020132): Increase in thickness of the basement membrane of the tubulus of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:27392076)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:33185949)
- Abnormal circulating renin concentration (HP:0040084): A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. Evidence: PCS. Frequency: 0/2. (PMID:27392076)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: PCS. Frequency: 0/2. (PMID:27392076)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. Frequency: 5/5. (PMID:33185949;PMID:27392076)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 2/6. (PMID:33185949;PMID:27392076)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 5/5. Onset: Congenital onset (HP:0003577). (PMID:27392076)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:33185949)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/4. (PMID:27392076)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/4. (PMID:27392076)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- 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: 1/1. (PMID:27392076)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/3. (PMID:27392076)
- Impaired renal uric acid clearance (HP:0004732): A reduction in the ability of the kidneys to remove uric acid from the serum. Evidence: PCS. Frequency: 0/2. (PMID:33185949;PMID:27392076)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:27392076)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:27392076)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: PCS. Frequency: 5/5. (PMID:27392076)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 2/5. (PMID:27392076)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:33185949)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/6. (PMID:33185949;PMID:27392076)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: PCS. Frequency: 1/1. (PMID:33185949)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/3. (PMID:27392076)
- Focal segmental glomerulosclerosis (HP:0000097): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: PCS. Frequency: 1/1. (PMID:27392076)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 0/2. (PMID:27392076)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 0/3. (PMID:33185949;PMID:27392076)
- Decreased urinary uromodulin level (HP:0034886): The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:27392076)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: PCS. Frequency: 2/2. (PMID:33185949;PMID:27392076)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 6/6. (PMID:33185949;PMID:27392076)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 0/5. (PMID:27392076)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/6. (PMID:27392076)
- Impaired renal concentrating ability (HP:0004727): A defect in the ability to concentrate the urine. Evidence: PCS. Frequency: 1/1. (PMID:33185949)
- Recurrent cutaneous abscess formation (HP:0100838): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: PCS. Frequency: 2/2. (PMID:27392076)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. (PMID:27392076)
- 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:27392076)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 6/6. (PMID:33185949;PMID:27392076)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: PCS. Frequency: 2/6. (PMID:33185949;PMID:27392076)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: PCS. Frequency: 2/6. (PMID:33185949;PMID:27392076)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/6. (PMID:33185949;PMID:27392076)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/6. (PMID:33185949;PMID:27392076)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/6. (PMID:33185949;PMID:27392076)
These phenotypes are associated with the disease hyperuricemic nephropathy, familial juvenile type 4 (OMIM:617056).