Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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== Oculocerebrorenal syndrome of Lowe == | == Oculocerebrorenal syndrome of Lowe == | ||
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Lowe syndrome, formally called oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe or OCRL, is an X-linked multisystemic disorder mainly involving eyes, nervous system (both the central and the peripheral) and kidneys caused by mutations in OCRL1 protein. The syndrome is quite rare, its prevalence is 1 in 500 000 in the general population (based on the observations of the American Lowe Syndrome Association and the Italian Association of Lowe syndrome). Almost all of the patients are male. The syndrome is believed to occur worldwide as there are documented cases in America, Europe, Australia, Japan and India.<ref name="Lowe syndrome">PMID: 20301653</ref><ref name="Oculocerebrorenal">PMID: 27011217</ref> | Lowe syndrome, formally called oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe or OCRL, is an X-linked multisystemic disorder mainly involving eyes, nervous system (both the central and the peripheral) and kidneys caused by mutations in OCRL1 protein. The syndrome is quite rare, its prevalence is 1 in 500 000 in the general population (based on the observations of the American Lowe Syndrome Association and the Italian Association of Lowe syndrome). Almost all of the patients are male. The syndrome is believed to occur worldwide as there are documented cases in America, Europe, Australia, Japan and India.<ref name="Lowe syndrome">PMID: 20301653</ref><ref name="Oculocerebrorenal">PMID: 27011217</ref> | ||