Phenotypes associated with the disease nephronophthisis-like nephropathy 2 (OMIM:619468):
- Periglomerular fibrosis (HP:0032417): Circumferential fibrosis in the interstitium surrounding Bowman's capsule. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- 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: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:23661805)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/2. (PMID:23661805)
- 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: 1/2. (PMID:23661805)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Tubular luminal dilatation (HP:0032622): Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- 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:23661805)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/2. (PMID:23661805)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 2/2. (PMID:23661805)