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DeCS
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Descriptor English:
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Oculocerebrorenal Syndrome
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Descriptor Spanish:
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síndrome oculocerebrorrenal
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Descriptor Portuguese:
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Síndrome Oculocerebrorrenal
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Synonyms English:
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Cerebro Oculo Renal Syndrome
Cerebro-Oculo-Renal Syndrome
Cerebrooculorenal Syndrome
Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase
Dystrophy, Oculocerebrorenal
Lowe Bickel Syndrome
Lowe Disease
Lowe Oculocerebrorenal Syndrome
Lowe Syndrome
Lowe Terrey MacLachlan Syndrome
Lowe-Bickel Syndrome
Lowe-Terrey-MacLachlan Syndrome
Oculocerebrorenal Dystrophy
Oculocerebrorenal Syndrome of Lowe
Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Renal Oculocerebrodystrophy
Renal-Oculocerebrodystrophy
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Tree Number:
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C10.228.140.163.100.640
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
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Definition English:
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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) |
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History Note English:
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1991(1977)
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Allowable Qualifiers English:
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Record Number:
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9986
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Unique Identifier:
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D009800
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Occurrence in VHL:
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Similar:
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DeCS
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