nephronophthisis-like nephropathy 1

A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.

Signs and symptoms

• Tubular basement membrane disintegration
• Nephronophthisis
• Renal tubular atrophy
• Hyperechogenic kidneys
• Hypertension
• Kinetic tremor
• Renal corticomedullary cysts
• Stage 5 chronic kidney disease
• Seizure
• Chronic pancreatitis

Also known as: NPHPL1