encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

Oculocerebrorenal Syndrome

More information in Books or onNLM PubMed
Definition: 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)      Other names Lowe Syndrome; Cerebrooculorenal Syndrome; Renal-Oculocerebrodystrophies; Renal Oculocerebrodystrophy; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatas; Oculocerebrorenal Dystrophies; Lowe Terrey MacLachlan Syndrome; Dystrophy, Oculocerebrorenal; Dystrophies, Oculocerebrorenal; Cerebrooculorenal Syndromes; Cerebro-Oculo-Renal Syndromes; Cerebro Oculo Renal Syndrome; Renal-Oculocerebrodystrophy; Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatas; Oculocerebrorenal Dystrophy; Lowe-Terrey-MacLachlan Syndrome; Lowe-Bickel Syndrome; Lowe Oculocerebrorenal Syndrome; Lowe Bickel Syndrome; Lowe Disease
 
SubstanceCAS Registry & nameCategoriesSource
Meier Blumberg Imahorn syndrome  0   *Calcium Metabolism Disorders *Oculocerebrorenal Syndrome. Helv Paediatr Acta. 1979;34(3):257-69
Ocrl protein, mouse  0   *Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome.
OCRL protein, human  EC 3.1.3.36   *Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome. Nature 1992 Jul 16;358(6383):239-42

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy