Oculocerebrorenal Syndrome

**Definition:** A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

**Tree numbers:** - C10.228.140.163.100.640 - C12.050.351.968.419.815.720 - C12.200.777.419.815.720 - C12.950.419.815.720 - C16.131.077.662 - C16.320.322.750 - C16.320.565.151.600 - C16.320.565.189.640 - C16.320.709 - C16.320.831.750 - C18.452.132.100.640 - C18.452.648.151.600 - C18.452.648.189.640

**Synonyms:** - Lowe-Terrey-MacLachlan Syndrome - Oculocerebrorenal Dystrophy - Renal-Oculocerebrodystrophy - Oculocerebrorenal Syndrome of Lowe - Lowe Syndrome - Cerebrooculorenal Syndrome - Cerebro-Oculo-Renal Syndrome - Lowe Disease - Lowe Oculocerebrorenal Syndrome - Lowe-Bickel Syndrome