- 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: 11/12. (PMID:27466185)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:17690917)
- 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: PCS. Frequency: 4/4. (PMID:27466185)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: PCS. (PMID:17690917)
- Lung adenocarcinoma (HP:0030078). Evidence: PCS. Frequency: 1/12. Onset: Young adult onset (HP:0011462). (PMID:27466185)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 3/12. (PMID:27466185)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: PCS. (PMID:17690917)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. (PMID:17690917)
- Decreased DLCO (HP:0045051): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: PCS. (PMID:27466185)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: PCS. (PMID:17690917)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 7/19. Onset: Juvenile onset (HP:0003621). (PMID:17690917)
- 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:27466185)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 12/12. (PMID:27466185)
- Hypophosphatemic rickets (HP:0004912). Evidence: PCS. Frequency: 19/19. (PMID:17690917)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. (PMID:27466185)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:17690917)
These phenotypes are associated with the disease Fanconi renotubular syndrome 5 (OMIM:618913).