Disease - Nephronophthisis 3
- DefinitionAn autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
- AcronymNPHP3
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Browse 1 entry- Nephrocystin-3 · Gene: NPHP3 (KIAA2000) · Homo sapiens (Human) · 1330 amino acids · Evidence at protein level · Annotation score: 5/5