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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Subheadings:
Tree Number(s): 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
MeSH Unique ID: D009800
Entry Terms:
- Lowe-Terrey-MacLachlan Syndrome
- Lowe Terrey MacLachlan Syndrome
- Oculocerebrorenal Dystrophy
- Dystrophy, Oculocerebrorenal
- Renal-Oculocerebrodystrophy
- Renal Oculocerebrodystrophy
- Oculocerebrorenal Syndrome of Lowe
- Lowe Syndrome
- Cerebrooculorenal Syndrome
- Cerebro-Oculo-Renal Syndrome
- Cerebro Oculo Renal Syndrome
- Lowe Disease
- Lowe Oculocerebrorenal Syndrome
- Lowe-Bickel Syndrome
- Lowe Bickel 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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