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Oculocerebrorenal Syndrome (Lowe Syndrome) Summary

Description: 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 Show All >>

Networked: 119 relevant articles (3 outcomes, 8 trials/studies) for this Disease

Key Drugs and Agents for Oculocerebrorenal Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Vitamin D : 1 outcome in 2 results : FDA 10 Generic
  2. Steroids : 1 outcome in 1 result : IBA
  3. Electrolytes : 1 outcome in 1 result : IBA
  4. Phosphatidylinositols (Phosphatidylinositol) : 1 study in 27 results : IBA
  5. inositol-polyphosphate 5-phosphatase : 1 study in 13 results : IBA
  6. Inositol (Myoinositol) : 1 study in 11 results : IBA
  7. DNA (Deoxyribonucleic Acid) : 1 study in 8 results : IBA
  8. rho GTPase-activating protein : 1 study in 5 results : IBA
  9. Nonsense Codon (Nonsense Mutation) : 1 study in 3 results : IBA
  10. Clathrin : 1 study in 3 results : IBA
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Diseases Related to Oculocerebrorenal Syndrome

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

Efficacy Chart >>
  1. Peritoneal Dialysis : 1 outcome in 1 result
  2. Ligation : 1 outcome in 1 result
  3. Intraocular Lens Implantation : 1 result

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