Lowe syndrome

external

• Causes

  • OCRL gene mutation

• Effects

  • Glaucoma
  • Hyperaminoaciduria
  • Phosphaturia
  • Proximal renal tubule acidosis
  • Proteinuria
  • Congenital cataract
  • Hereditary Fanconi syndrome

• Parents

  • Renal metabolic disorder
  • X-Linked recessive congenital metabolic disease

• Description

  • "mutations in OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase This protein is associated with -cilia of the retinal pigment epithelial cells
  • -fibroblasts -kidney tubular cells Fanconi type tubular dysfunction"