Conditions / Syndrome
X-linked Alport syndrome
info · Syndrome
An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
Signs and symptoms
- Reduced epidermal collagen IV alpha 5 chain staining
- Stage 5 chronic kidney disease
- Nephritis
- Nephrotic syndrome
- Renal insufficiency
- Lenticonus
- Glomerular basement membrane lamellation
- Anterior lenticonus
- Proteinuria
- Hypoparathyroidism
Also known as: nephropathy and deafness, X-linked