Definitions for oculocerebrorenal syndrome

This page provides all possible meanings and translations of the word oculocerebrorenal syndrome

Freebase

  1. 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

  1. Oculocerebrorenal 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)

Translation

Find a translation for the oculocerebrorenal syndrome definition in other languages:

Select another language:

Discuss these oculocerebrorenal syndrome definitions with the community:


Citation

Use the citation below to add this definition to your bibliography:

Style:MLAChicagoAPA

"oculocerebrorenal syndrome." Definitions.net. STANDS4 LLC, 2014. Web. 18 Apr. 2014. <http://www.definitions.net/definition/oculocerebrorenal syndrome>.

Are we missing a good definition for oculocerebrorenal syndrome?


The Web's Largest Resource for

Definitions & Translations


A Member Of The STANDS4 Network


Nearby & related entries:

Alternative searches for oculocerebrorenal syndrome: