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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; Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency; Renal-Oculocerebrodystrophy; Cerebro Oculo Renal Syndrome; Cerebro-Oculo-Renal Syndromes; Cerebrooculorenal Syndromes; Dystrophies, Oculocerebrorenal; Dystrophy, Oculocerebrorenal; Lowe Bickel Syndrome; Lowe Terrey MacLachlan Syndrome; Oculocerebrorenal Dystrophies; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency; Renal Oculocerebrodystrophy; Renal-Oculocerebrodystrophies; Cerebrooculorenal Syndrome
Networked: 119 relevant articles (3 outcomes, 8 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: 11 articles (01/2016 - 08/2005)
2. De Camilli, Pietro: 7 articles (01/2014 - 09/2007)
3. Nussbaum, Robert L: 5 articles (10/2010 - 12/2002)
4. Lunardi, Joël: 5 articles (09/2010 - 10/2003)
5. Noakes, Christopher J: 3 articles (01/2016 - 04/2009)
6. Pietka, Grzegorz: 3 articles (04/2015 - 04/2012)
7. Ha, Il Soo: 3 articles (11/2014 - 02/2008)
8. Choi, Hyun Jin: 3 articles (11/2014 - 02/2008)
9. Cheong, Hae Il: 3 articles (11/2014 - 02/2008)
10. Paradise, Summer: 3 articles (01/2014 - 09/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocerebrorenal Syndrome:
1. Vitamin DFDA LinkGeneric
2. SteroidsIBA
3. ElectrolytesIBA
4. Phosphatidylinositols (Phosphatidylinositol)IBA
5. inositol-polyphosphate 5-phosphataseIBA
6. Inositol (Myoinositol)IBA
7. DNA (Deoxyribonucleic Acid)IBA
8. rho GTPase-activating proteinIBA
9. Nonsense Codon (Nonsense Mutation)IBA
10. ClathrinIBA

Therapies and Procedures

1. Peritoneal Dialysis
2. Ligation
3. Intraocular Lens Implantation