ReviewPediatric nephrology (Berlin, Germany)2016
The oculocerebrorenal syndrome of Lowe: an update.
Review in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 149 citations in OpenAlex.
- Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.Pediatric nephrology (Berlin, Germany) · 2026Article
- Article
- CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Coexistence of a NovelJournal of clinical medicine · 2026Article
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
- Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.EMBO molecular medicine · 2025Article
- PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.Clinical genetics · 2025Article
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Review
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Clinical variation in Lowe syndrome: what and how?Frontiers in cell and developmental biology · 2025Review
- A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Nephrology (Carlton, Vic.) · 2024Review
- Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.BMC pregnancy and childbirth · 2024Article
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.Human molecular genetics · 2024Article
- Fetal and Placental Causes of Elevated Serum Alpha-Fetoprotein Levels in Pregnant Women.Journal of clinical medicine · 2024Review
- Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.Journal of ophthalmology · 2024Review
20 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Many patients develop a debilitating arthropathy. Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for the loss of enzyme function. Extensive research has demonstrated that OCRL-1 is involved in multiple intracellular processes involving endocytic trafficking and actin skeleton dynamics. This explains the multi-organ manifestations of the disease. Still, the mechanisms underlying the wide phenotypic spectrum are poorly understood, and we are far from a causative therapy. In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome and the cellular and physiological functions of OCRL-1.
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