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)

Descriptor ID	D009800
MeSH Number(s)	C10.228.140.163.100.640 C12.777.419.815.720 C13.351.968.419.815.720 C16.131.077.661 C16.320.322.750 C16.320.565.151.600 C16.320.565.189.640 C16.320.565.861.750 C18.452.132.100.640 C18.452.648.151.600 C18.452.648.189.640 C18.452.648.861.750
Concept/Terms	Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Cerebrooculorenal Syndrome Cerebrooculorenal Syndromes Lowe Disease Renal-Oculocerebrodystrophy Renal Oculocerebrodystrophy Renal-Oculocerebrodystrophies Lowe Syndrome Lowe-Bickel Syndrome Lowe Bickel Syndrome Lowe-Terrey-MacLachlan Syndrome Lowe Terrey MacLachlan Syndrome Oculocerebrorenal Dystrophy Dystrophies, Oculocerebrorenal Dystrophy, Oculocerebrorenal Oculocerebrorenal Dystrophies Cerebro-Oculo-Renal Syndrome Cerebro Oculo Renal Syndrome Cerebro-Oculo-Renal Syndromes Lowe Oculocerebrorenal Syndrome Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency

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