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| Oculocerebrorenal syndrome Classification and external resources |
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| 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, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.
It is associated with the gene OCRL.
Lowe syndrome can be considered a cause of Fanconi syndrome.[1]
Eponym
It is named for Charles Upton Lowe.[2][3]
References
- ^ Vilasi A, Cutillas PR, Maher AD, et al (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–67. doi:. PMID 17494094.
- ^ synd/3512 at Who Named It
- ^ 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
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Wikipedia content modification information:
- This page was last modified on 22 August 2008, at 13:15.
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