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Oculocerebrorenal Syndrome

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)

Year introduced: 1991(1977)

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Tree Number(s): C10., C12.777.419.815.720, C13.351.968.419.815.720, C16.131.077.662, C16.320.322.750, C16.320.565.151.600, C16.320.565.189.640, C16.320.565.861.750, C16.320.709, C18.452.132.100.640, C18.452.648.151.600, C18.452.648.189.640, C18.452.648.861.750

MeSH Unique ID: D009800

Entry Terms:

  • Cerebrooculorenal Syndrome
  • Cerebro-Oculo-Renal Syndrome
  • Cerebro Oculo Renal Syndrome
  • Lowe Disease
  • Oculocerebrorenal Syndrome of Lowe
  • Lowe-Bickel Syndrome
  • Lowe Bickel Syndrome
  • Lowe-Terrey-MacLachlan Syndrome
  • Lowe Terrey MacLachlan Syndrome
  • Oculocerebrorenal Dystrophy
  • Dystrophy, Oculocerebrorenal
  • Renal-Oculocerebrodystrophy
  • Renal Oculocerebrodystrophy
  • Lowe Syndrome
  • Lowe Oculocerebrorenal Syndrome
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
  • Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency
  • Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
  • Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase

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