Phenotypes associated with the disease nephronophthisis 2 (OMIM:602088):
- Chronic tubulointerstitial nephritis (HP:0004743): Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: IEA. (OMIM:602088)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:602088)
- 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: 5/5. Onset: Childhood onset (HP:0011463). (PMID:12872123)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:602088)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: 1/7. (OMIM:602088)
- Absence of renal corticomedullary differentiation (HP:0005564): A lack of differentiation between renal cortex and medulla on diagnostic imaging. Evidence: IEA. (OMIM:602088)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:602088)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. (PMID:12872123)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: TAS. (OMIM:602088)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:602088)
- 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: TAS. (OMIM:602088)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 3/7. (PMID:12872123)
- 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:12872123)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. (OMIM:602088)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: IEA. (OMIM:602088)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. (OMIM:602088)
- Renal cortical microcysts (HP:0004734): Cysts of microscopic size confined to the cortex of the kidney. Evidence: PCS. Frequency: 3/6. (PMID:12872123)
- Hyperkalemic metabolic acidosis (HP:0005976). Evidence: IEA. (OMIM:602088)