Phenotypes associated with the disease nephronophthisis 1 (OMIM:256100):
- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: IEA. (OMIM:256100)
- 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: IEA. (OMIM:256100)
- 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:256100)
- Tubular basement membrane disintegration (HP:0005583): DIsruption and breaking up of the basement membrane of the tubules of the kidney. Evidence: IEA. (OMIM:256100)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. Frequency: 2/2. (PMID:9361039)
- 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: IEA. (OMIM:256100)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: IEA. (OMIM:256100)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:256100)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:256100)
- 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:9361039)
- Renal corticomedullary cysts (HP:0000108): The presence of multiple cysts at the border between the renal cortex and medulla. Evidence: IEA. (OMIM:256100)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:256100)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:256100)