Oculocerebrorenal Syndrome
"Oculocerebrorenal Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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
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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
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Concept/Terms |
Oculocerebrorenal Syndrome- Oculocerebrorenal Syndrome
- Cerebrooculorenal Syndrome
- Lowe Disease
- Lowe Oculocerebrorenal Syndrome
- 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
- Cerebro-Oculo-Renal Syndrome
- Cerebro Oculo Renal Syndrome
- Lowe Syndrome
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency- 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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Below are MeSH descriptors whose meaning is more general than "Oculocerebrorenal Syndrome".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Renal Tubular Transport, Inborn Errors [C12.777.419.815]
- Oculocerebrorenal Syndrome [C12.777.419.815.720]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]
- Oculocerebrorenal Syndrome [C13.351.968.419.815.720]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Oculocerebrorenal Syndrome [C16.131.077.661]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Oculocerebrorenal Syndrome [C16.320.322.750]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Transport Disorders, Inborn [C16.320.565.151]
- Oculocerebrorenal Syndrome [C16.320.565.151.600]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Oculocerebrorenal Syndrome [C16.320.565.189.640]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Oculocerebrorenal Syndrome [C16.320.565.861.750]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Oculocerebrorenal Syndrome [C18.452.132.100.640]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Transport Disorders, Inborn [C18.452.648.151]
- Oculocerebrorenal Syndrome [C18.452.648.151.600]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Oculocerebrorenal Syndrome [C18.452.648.189.640]
- Renal Tubular Transport, Inborn Errors [C18.452.648.861]
- Oculocerebrorenal Syndrome [C18.452.648.861.750]
Below are MeSH descriptors whose meaning is more specific than "Oculocerebrorenal Syndrome".
This graph shows the total number of publications written about "Oculocerebrorenal Syndrome" by people in this website by year, and whether "Oculocerebrorenal Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2000 | 1 | 0 | 1 |
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Below are the most recent publications written about "Oculocerebrorenal Syndrome" by people in Profiles.
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Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18; 95(5):461-6.
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