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
|
| 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
|
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".
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Below are the most recent publications written about "Oculocerebrorenal Syndrome" by people in Profiles.