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Oculocerebrorenal syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Oculocerebrorenal syndrome" returned 1 free, full-text review articles. First 1 results:
The oculocerebrorenal syndrome of Lowe: an update.
Last Updated: Nov 13, 2018

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first ...

Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies.
Last Updated: Nov 25, 2016

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked recessive disorder, chiefly characterized by ocular involvement, mental retardation, and kidney disease. A literature review is provided, detailing the diversity of oral anomalies associated with the OCRL syndrome. Reported ...

Oculocerebrorenal Lowe syndrome: a literature review and two case reports.
Last Updated: Nov 24, 2016

The present paper reviews the dental findings in oculocerebrorenal Lowe syndrome and presents two case histories. Reports of different patients are useful in order to enhance knowledge about the syndrome, because there are so many different oral manifestations.

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1 Free Review Articles 4 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Oculocerebrorenal syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Oculocerebrorenal syndrome" returned 17 free, full-text research articles. First few results:
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Last Updated: May 30, 2019

To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.

Loss of OCRL increases ciliary PI(4,5)P in Lowe oculocerebrorenal syndrome.
Last Updated: Nov 13, 2018

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P, cause Lowe syndrome. Previously ...

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Last Updated: Dec 11, 2018

Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates ...

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17 Free Research Articles 38 Research Articles