Conditions / Urinary
nephronophthisis 11
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
Signs and symptoms
- Stage 5 chronic kidney disease
- Hepatic fibrosis
- Nephronophthisis
- Tubular basement membrane disintegration
- Renal tubular atrophy
- Polydipsia
- Anemia
- Renal corticomedullary cysts
- Polyuria
- Growth delay
Also known as: NPHP11