Oculocerebrorenal syndrome
HUMAN DISEASE
Lowe syndrome; Lowe's Oculocerebrorenal Syndrome; Lowe Syndrome; Charles Upton Lowe; Lowe's syndrome; Oculo-cerebro-renal syndrome; Lowe’s syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss).