Lowe Syndrome Overview
Learn About Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.
Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Martin Lowe practices in Manchester, United Kingdom. Mr. Lowe is rated as an Elite expert by MediFind in the treatment of Lowe Syndrome. His top areas of expertise are Lowe Syndrome, Gerodermia Osteodysplastica, Ventricular Fibrillation, and Cystinosis.
Na Luo is a Holistic Medicine provider in Sunnyvale, California. Ms. Luo is rated as an Elite provider by MediFind in the treatment of Lowe Syndrome. Her top areas of expertise are Lowe Syndrome and Ocular Hypertension (OHT).
Kandai Nozu practices in Kobe, Japan. Nozu is rated as an Elite expert by MediFind in the treatment of Lowe Syndrome. Their top areas of expertise are Bartter Syndrome, Alport Syndrome, Nephrotic Syndrome, Nephrectomy, and Kidney Transplant.
Summary: The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the dise...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: November 01, 2013
Published By: National Institutes of Health