Definitions for oculocerebrorenal syndrome
This page provides all possible meanings and translations of the word oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases. Lowe syndrome can be considered a cause of Fanconi syndrome.
U.S. National Library of Medicine
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)
Find a translation for the oculocerebrorenal syndrome definition in other languages:
Select another language:
Discuss these oculocerebrorenal syndrome definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"oculocerebrorenal syndrome." Definitions.net. STANDS4 LLC, 2015. Web. 30 Jun 2015. <http://www.definitions.net/definition/oculocerebrorenal syndrome>.