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Oculocerebrorenal Syndrome (Lowe 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)
Also Known As:
Lowe Syndrome; Lowe Oculocerebrorenal Syndrome; Cerebro-Oculo-Renal Syndrome; Lowe Disease; 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; Renal-Oculocerebrodystrophy; Cerebro Oculo Renal Syndrome; Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase; Dystrophy, Oculocerebrorenal; Lowe Bickel Syndrome; Lowe Terrey MacLachlan Syndrome; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency; Renal Oculocerebrodystrophy; Cerebrooculorenal Syndrome
Networked: 199 relevant articles (4 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Fanconi Syndrome (Syndrome, Fanconi)
2. Renal Insufficiency (Renal Failure)
3. Cystinosis
4. Hydronephrosis
5. Glycogen Storage Disease (Glycogenosis)

Experts

1. Lowe, Martin: 18 articles (01/2022 - 08/2005)
2. De Camilli, Pietro: 10 articles (01/2019 - 07/2003)
3. Nussbaum, Robert L: 7 articles (01/2019 - 12/2002)
4. Ludwig, Michael: 6 articles (12/2016 - 12/2006)
5. Aguilar, R Claudio: 5 articles (01/2021 - 12/2009)
6. Rendu, John: 5 articles (01/2021 - 04/2010)
7. Salomon, Rémi: 5 articles (01/2021 - 09/2010)
8. Sun, Yang: 5 articles (01/2021 - 01/2013)
9. Erneux, Christophe: 5 articles (01/2020 - 10/2007)
10. De Matteis, Maria Antonietta: 5 articles (01/2019 - 05/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocerebrorenal Syndrome:
1. Vitamin DFDA LinkGeneric
2. SteroidsIBA
3. ElectrolytesIBA
4. Proteins (Proteins, Gene)FDA Link
5. EnzymesIBA
6. Amino AcidsFDA Link
7. Phosphatidylinositols (Phosphatidylinositol)IBA
8. Inositol Polyphosphate 5-PhosphatasesIBA
9. Phosphoric Monoester Hydrolases (Phosphatases)IBA
10. DNA (Deoxyribonucleic Acid)IBA

Therapies and Procedures

1. Renal Replacement Therapy (Therapies, Renal Replacement)
2. Peritoneal Dialysis
3. Ligation
4. Intraocular Lens Implantation
5. Therapeutics