Oculocerebrorenal syndrome

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Oculocerebrorenal syndrome
ICD-10	E72.0
ICD-9	270.8
OMIM	309000
DiseasesDB	29146
eMedicine	oph/516
MeSH	D009800

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [3] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

It is associated with the gene OCRL.

Eponym

It is named for Charles Upton Lowe.

External Links

• Lowe Syndrome Association Official Website
• U.K. Lowe Syndrome Trust