OCRL and oculocerebrorenal syndrome: Similarly, loss or inactivation of the PI(4,5)P2-metabolizing 5-phosphatase OCRL leads to Lowe syndrome (112) and the milder Dent's disease (i.e., Dent-2) as a consequence of defective endocytic membrane dynamics caused by the accumulation of its main substrate PI(4,5)P2.