Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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== Oculocerebrorenal syndrome of Lowe == | == Oculocerebrorenal syndrome of Lowe == | ||
'''Lowe syndrome''', formally called oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe or '''OCRL''', is an '''X-linked multisystemic disorder''' mainly affecting eyes, nervous system (both the central and the peripheral) and kidneys and it is caused by '''mutations in OCRL1 protein'''. The syndrome is 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 affecting eyes, nervous system (both the central and the peripheral) and kidneys and it is caused by '''mutations in OCRL1 protein'''. The syndrome is 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> | ||
There is a rather wide range of different phenotypes in Lowe syndrome patients so the individual cases may vary significantly. Amongst the hallmarks of Lowe syndrome are dense congenital cataracts, some degree of intellectual impairment and usually severe mental retardation, severe growth retardation and generalized hypotonia, proximal renal tubular dysfunction of the renal Fanconi type, which slowly progresses towards renal failure/end-stage renal disease (ERSD) in adulthood.<ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/> | There is a rather wide range of different phenotypes in Lowe syndrome patients so the individual cases may vary significantly. Amongst the hallmarks of Lowe syndrome are dense congenital cataracts, some degree of intellectual impairment and usually severe mental retardation, severe growth retardation and generalized hypotonia, proximal renal tubular dysfunction of the renal Fanconi type, which slowly progresses towards renal failure/end-stage renal disease (ERSD) in adulthood.<ref name="Lowe syndrome"/><ref name="Oculocerebrorenal"/> | ||