Conditions / Genetic
RENI syndrome
info · Genetic
A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
Signs and symptoms
- Hyperpigmentation of the skin
- Hypothyroidism
- Ichthyosis
- Steroid-resistant nephrotic syndrome
- Stage 5 chronic kidney disease
- Strabismus
- Nephrotic syndrome
- Seizure
- Generalized hypotonia
- Hypoalbuminemia
Also known as: nephrotic syndrome type 14