Lowe Syndrome Database (Beta)
About
Lowe syndrome (https://www.omim.org/entry/309000) is an X-linked disease caused by mutations in the OCRL1 gene. This condition, also known as Oculo-Cerebro-Renal syndrome of Lowe (OCRL), is due to functional deficiencies of the lipid phosphatase Ocrl1 (EC 3.1.3.36). Patients show ocular, neurological and renal abnormalities, with kidney failure as the most common cause of premature death among affected children. Unfortunately, there is no cure available to patients.
This website is a beta version database developed and maintained by the AguilarLab in conjunction with ScienceIT at Purdue University. It is expected that this resource will provide important information to support research in the Lowe Syndrome field.
For additional information on Lowe Syndrome
https://ghr.nlm.nih.gov/condition/lowe-syndrome
Contributors
AGUILAR LAB contributors: Swetha Ramadesikan PhD, Sneha Subramanian MS, Jennifer Lee MS and R. Claudio Aguilar PhD
ScienceIT contributors: J. Noah Davis and Eric Hassenplug
We also thank undergraduate students Tom Holman, Lisette Skiba, and Connor Tebbe for help in collection and organization of data and Roger Mahrling for helpful discussions.
A BIG thank you to the Lowe syndrome patients and their families and research community.
Lowe Syndrome Database Disclosure/Disclaimer
The Lowe Syndrome Database is a tertiary source and collaborative on-line site that is open to the public for purposes of providing a more comprehensive understanding of the disorder, by the collection and organization of reports on the disease ‘as is’. While we aim to provide meaningful information, we cannot guarantee the correctness or validity of data provided on this site, and all personnel who update and maintain the database are not responsible for any inaccurate or libelous information. We do not assume legal liability or responsibility for accuracy or completeness. All material found on this database is for research and informational purposes alone, provided to promote progress in this field of research. Original data provided on the site may be subject to rights claimed by the original data owners. In addition to such restrictions, the Lowe Syndrome Database does not place further limits on use or distribution of available data.