Conditions

Meckel-Gruber Syndrome Lethal ciliopathy with cystic kidneys and brain malformations. Sickle Cell Nephropathy Sickle-shaped RBCs cause microinfarctions. Nail–Patella Syndrome Nail dysplasia with glomerulopathy. Pierson Syndrome Congenital nephrotic syndrome with ocular defects. Frasier Syndrome Ambiguous genitalia and focal segmental glomerulosclerosis. Mitochondrial Cytopathies (Renal Involvement) Defective energy metabolism causes renal tubular defects. Birt-Hogg-Dubé Syndrome Skin lesions, lung cysts, and renal tumors. Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) FH mutation predisposing to RCC. Von Hippel–Lindau Disease Tumor syndrome with renal cell carcinoma risk. Tuberous Sclerosis Complex Causes renal angiomyolipomas and cysts.