Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Oculocerebrorenal Syndrome

"Oculocerebrorenal Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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)


This graph shows the total number of publications written about "Oculocerebrorenal Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Oculocerebrorenal Syndrome" was a major or minor topic of these publication.
Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 1998 and 2014 and 2015
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.