Phenotypes associated with the disease familial juvenile hyperuricemic nephropathy type 1 (OMIM:162000):
- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: PCS. Frequency: 3/8. (PMID:36606057;PMID:17245395;PMID:37487849)
- 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: 91/182. (PMID:23826568;PMID:28509303;PMID:23197950;PMID:32274456;PMID:33574344;PMID:34904096;PMID:32847529;PMID:31068150;PMID:15844001;PMID:14569098;PMID:15673476;PMID:23988501;PMID:37487849;PMID:15575003;PMID:14531790;PMID:22034507;PMID:36606057;PMID:21060763;PMID:29513881;PMID:17245395;PMID:27729211;PMID:29569962;PMID:15983957;PMID:27764983;PMID:20151160;PMID:33616882)
- 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:12471200)
- 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: 30/66. (PMID:22034507;PMID:28509303;PMID:32847529;PMID:33574344;PMID:29513881;PMID:17245395;PMID:32274456;PMID:14531790)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: IEA. (OMIM:162000)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 17/33. (PMID:22034507;PMID:23826568;PMID:23197950;PMID:23988501;PMID:17245395;PMID:15575003;PMID:27729211;PMID:15844001;PMID:25786455;PMID:27764983;PMID:20151160;PMID:14531790)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: PCS. Frequency: 1/1. (PMID:23988501)
- Decreased urinary urate (HP:0011935): Decreased concentration of urate in the urine. Evidence: PCS. Frequency: 2/2. (PMID:37487849;PMID:31068150)
- 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: PCS. Frequency: 12/12. (PMID:12471200)
- 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: 6/6. (PMID:28509303;PMID:29513881;PMID:27729211;PMID:29569962;PMID:20151160;PMID:33616882)
- 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: 12/12. (PMID:22034507;PMID:36606057;PMID:29513881;PMID:27729211;PMID:15844001;PMID:25786455;PMID:20151160;PMID:27764983)
- 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: 8/8. (PMID:22034507;PMID:28509303;PMID:37487849;PMID:27764983)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. Frequency: 33/33. (PMID:14569098;PMID:23826568;PMID:15673476;PMID:23197950;PMID:32274456;PMID:23988501;PMID:33574344;PMID:34904096;PMID:15575003;PMID:14531790;PMID:22034507;PMID:21060763;PMID:32847529;PMID:15983957)
- Stage 1 chronic kidney disease (HP:0012623): A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). Evidence: PCS. Frequency: 23/29. (PMID:22034507;PMID:14569098;PMID:15673476;PMID:29513881;PMID:23988501;PMID:15983957)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/15. (PMID:17245395;PMID:37487849;PMID:31068150;PMID:27764983;PMID:33616882)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 50/89. (PMID:23826568;PMID:15673476;PMID:23197950;PMID:33574344;PMID:32274456;PMID:23988501;PMID:34904096;PMID:15575003;PMID:25786455;PMID:14531790;PMID:22034507;PMID:32847529;PMID:17245395;PMID:15844001;PMID:27764983;PMID:20151160)
- 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: 4/23. (PMID:23826568;PMID:23197950;PMID:29513881;PMID:17245395;PMID:37487849;PMID:31068150;PMID:25786455;PMID:15844001;PMID:20151160)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 1/1. (PMID:37487849)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 20/33. (PMID:12471200;PMID:36606057;PMID:21060763;PMID:32847529;PMID:23988501;PMID:17245395;PMID:29569962;PMID:15844001;PMID:20151160)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 0/6. (PMID:17245395)
- IgA deposition in the glomerulus (HP:0000794): The presence of immunoglobulin A deposits in the glomerulus. Evidence: PCS. Frequency: 0/1. (PMID:37487849)
- Reduced renal corticomedullary differentiation (HP:0005565): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: PCS. Frequency: 2/12. (PMID:36606057;PMID:23826568;PMID:17245395;PMID:37487849;PMID:20151160)
- Renal interstitial fibrosis (HP:0032948): The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. Evidence: PCS. Frequency: 21/24. (PMID:14569098;PMID:36606057;PMID:28509303;PMID:32847529;PMID:33574344;PMID:17245395;PMID:37487849;PMID:15575003;PMID:31068150;PMID:25786455;PMID:27764983;PMID:14531790)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 2/2. (PMID:36606057;PMID:37487849)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 2/19. (PMID:22034507)
- 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: 5/32. (PMID:23826568;PMID:32847529;PMID:23197950;PMID:32274456;PMID:29513881;PMID:31068150;PMID:25786455)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: PCS. Frequency: 10/15. (PMID:36606057;PMID:28509303;PMID:32847529;PMID:17245395;PMID:31068150;PMID:15844001;PMID:25786455;PMID:27764983;PMID:14531790)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 33/57. (PMID:23826568;PMID:28509303;PMID:23197950;PMID:32274456;PMID:15575003;PMID:25786455;PMID:22034507;PMID:36606057;PMID:21060763;PMID:32847529;PMID:17245395;PMID:29513881;PMID:31068150;PMID:27729211;PMID:15844001;PMID:20151160;PMID:27764983;PMID:33616882)
- Renal tubular atrophy (HP:0000092): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: PCS. Frequency: 24/24. (PMID:12471200;PMID:36606057;PMID:28509303;PMID:32847529;PMID:17245395;PMID:37487849;PMID:31068150;PMID:25786455;PMID:14531790)
- 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: 28/32. (PMID:12471200)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 42/72. (PMID:28509303;PMID:23197950;PMID:23988501;PMID:37487849;PMID:15575003;PMID:14531790;PMID:22034507;PMID:36606057;PMID:32847529;PMID:17245395;PMID:27729211;PMID:29569962;PMID:15983957;PMID:20151160;PMID:33616882)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 25/65. (PMID:14569098;PMID:15673476;PMID:23197950;PMID:33574344;PMID:23988501;PMID:25786455;PMID:14531790;PMID:29513881;PMID:17245395;PMID:31068150;PMID:15983957;PMID:20151160;PMID:33616882)
- Renal corticomedullary cysts (HP:0000108): The presence of multiple cysts at the border between the renal cortex and medulla. Evidence: PCS. Frequency: 2/3. (PMID:36606057;PMID:15673476;PMID:37487849)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. Frequency: 2/4. (PMID:22034507)
- 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:12471200)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 50/57. (PMID:23826568;PMID:28509303;PMID:15673476;PMID:23197950;PMID:33574344;PMID:23988501;PMID:37487849;PMID:34904096;PMID:15575003;PMID:36606057;PMID:21060763;PMID:29513881;PMID:17245395;PMID:29569962;PMID:15844001;PMID:27764983;PMID:20151160)
- 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: 36/85. (PMID:14569098;PMID:28509303;PMID:23826568;PMID:15673476;PMID:23197950;PMID:33574344;PMID:37487849;PMID:34904096;PMID:15575003;PMID:14531790;PMID:22034507;PMID:36606057;PMID:21060763;PMID:32847529;PMID:17245395;PMID:29513881;PMID:15844001;PMID:15983957;PMID:27764983;PMID:20151160;PMID:33616882)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: PCS. Frequency: 6/6. (PMID:36606057;PMID:23826568;PMID:21060763;PMID:23197950;PMID:34904096;PMID:15844001)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 100/130. (PMID:12471200;PMID:28509303;PMID:23826568;PMID:15673476;PMID:23197950;PMID:23988501;PMID:33574344;PMID:37487849;PMID:34904096;PMID:15575003;PMID:25786455;PMID:14531790;PMID:36606057;PMID:21060763;PMID:32847529;PMID:29513881;PMID:17245395;PMID:29569962;PMID:15844001;PMID:15983957;PMID:20151160;PMID:27764983;PMID:33616882)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: PCS. Frequency: 7/9. (PMID:32847529;PMID:17245395;PMID:14531790)