Mesh term Oculocerebrorenal Syndrome
Browse to parent terms:Abnormalities, Multiple
Amino Acid Transport Disorders, Inborn
Brain Diseases, Metabolic, Inborn
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Renal Tubular Transport, Inborn Errors
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)Search for this term in our Faculty Database
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