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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lowe oculocerebrorenal syndrome


Other Names for this Disease
  • OCRL
  • OCRL1
  • Lowe syndrome
  • Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
  • Oculocerebrorenal syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as Fanconi syndrome), infantile glaucoma, impaired vision, developmental delay, intellectual disability, behavioral problems, seizures and short stature.[1][2][3] Lowe oculocerebrorenal syndrome occurs almost exclusively in males. The condition is caused by changes (mutations) in the OCRL and is inherited in an X-linked recessive manner.[1][2] Treatment is based on the signs and symptoms present in each person.[2][3]
Last updated: 3/13/2016

References

  1. Lowe syndrome. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/lowe-syndrome.
  2. Richard Alan Lewis, MD, MS, Robert L Nussbaum, MD, and Eileen D Brewer, MD. Lowe Syndrome. GeneReviews. February 2012; http://www.ncbi.nlm.nih.gov/books/NBK1480.
  3. Deborah M Alcorn, MD. Oculocerebrorenal Syndrome. Medscape Reference. December 2014; http://emedicine.medscape.com/article/1214184-overview.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Lowe oculocerebrorenal syndrome. This website is maintained by the National Library of Medicine.
  • The Lowe Syndrome Association offers an information page on Lowe oculocerebrorenal syndrome. Please click on the link to access this resource.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lowe oculocerebrorenal syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OCRL
  • OCRL1
  • Lowe syndrome
  • Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
  • Oculocerebrorenal syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.