Conditions / Genetic
nephrotic syndrome type 11
info · Genetic
A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
Signs and symptoms
- Focal segmental glomerulosclerosis
- Stage 5 chronic kidney disease
- Narrow forehead
- Sloping forehead
- Nephrotic syndrome
- Hypoalbuminemia
- Cleft lip
- Smooth philtrum
- Diffuse mesangial sclerosis
- High palate