Oculocerebrorenal syndrome: Difference between revisions
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Revision as of 14:35, 9 January 2009
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Oculocerebrorenal syndrome | |
ICD-10 | E72.0 |
---|---|
ICD-9 | 270.8 |
OMIM | 309000 |
DiseasesDB | 29146 |
eMedicine | oph/516 |
MeSH | D009800 |
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.[1][2]
References
- ↑ Template:WhoNamedIt
- ↑ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children. 83 (2): 164–84. PMID 14884753.
External Links
Template:Metabolic pathology Template:SIB de:Lowe-Syndrom fi:Lowen oireyhtymä