Conditions / Syndrome
Alport syndrome 2
info · Syndrome
An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
Signs and symptoms
- Stage 5 chronic kidney disease
- Hearing impairment
- Nephritis
- Nephrotic syndrome
- Renal insufficiency
- Glomerular basement membrane lamellation
- Hematuria
- Anterior lenticonus
- Proteinuria
- Cataract
Also known as: autosomal recessive Alport syndrome