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 C16.131.077.662 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
|
| Concept/Terms |
Oculocerebrorenal Syndrome- Oculocerebrorenal Syndrome
- 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
- Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
- Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase
|
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 [C16.131.077.662]
- 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]
- Oculocerebrorenal Syndrome [C16.320.709]
- 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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2018 | 0 | 1 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Oculocerebrorenal Syndrome" by people in Profiles.
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Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism. Cell Mol Life Sci. 2018 Nov; 75(21):4021-4040.
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Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol. 2016 08; 18(8):839-850.
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
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Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2602-5.
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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16; 358(6383):239-42.
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Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis. 1992; 15(4):526-31.