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Oculocerebrorenal syndrome



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

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.

Additional recommended knowledge

It is associated with the gene OCRL.

Eponym

It is named for Charles Upton Lowe.[1][2]

References

  1. ^ synd/3512 at Who Named It
  2. ^ 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.


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Oculocerebrorenal_syndrome". A list of authors is available in Wikipedia.
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