Lowe syndrome
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
Cell lines from kidney proximal tubules of a patient with <span class="disease" id="9430698-0-58-71">Lowe syndrome</span> lack <span class="gene" id="9430698-0-77-118">OCRL inositol polyphosphate 5-phosphatase</span> and accumulate phosphatidylinositol 4,5-bisphosphate.