Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)

Lowe syndrome is a rare X-linked disorder caused by the deficiency of a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase. The disorder is characterized by bilateral congenital cataracts, a form of renal Fanconi syndrome, with proteinuria, albuminuria, aminoaciduria and phosphaturia, and neurologic deficits including developmental delay/mental retardation, seizures and behavioral stereotypies. Additional findings include hypotonia, a characteristic facies, postnatal growth retardation and corneal keloids. Mutations in the OCRL gene also cause a form of Dent disease, known as Dent disease 2 (OMIM 300555). Although the most common cause of Dent disease is mutations in the CLCN5 gene, approximately 16-23% of Dent disease cases are due to mutations in the OCRL gene. Dent disease is a rare X-linked disorder characterized by renal Fanconi syndrome, without the cataracts and neurologic deficits that occur in Lowe syndrome.

Tests Available

Forms and Documents

Test Details

  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 270 Disorders of amino-acid transport and metabolism Excludes: abnormal findings without manifest disease (790.0-796.9) disorders of purine and pyrimidine metabolism (277.1-277.2) gout (274.00-274.9)
  • 639.3 Kidney failure Oliguria
  • 277.8 Other specified disorders of metabolism
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  1. Leahey et al. Hum Mol Genet 4:461-463, 1993
  2. Utsch et al., Am J Kidney Dis 48, 942
  3. Lin et al., Am J Hum Genet 60:1384-1388, 1997
  4. Suchy et al., Hum Mutat 4:2245-2250, 1995
  5. Hoopes et al., Am J Hum Genet 76:260-267, 2005
  6. Nussbaum and Suchy, Lowe Syndrome, In CR Scriver, AL Beaudet, WE Sly and D Valle (Eds) Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY, pp. 6257-6266, 2001