Learn About Gillespie Syndrome

What is the definition of Gillespie Syndrome?

Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

Save information for later
Sign Up
What are the causes of Gillespie Syndrome?

Gillespie syndrome is caused by mutations in the ITPR1 gene. This gene provides instructions for making a protein that is part of a channel that controls the flow of positively charged calcium atoms (calcium ions) within cells. Four ITPR1 protein molecules join together in a complex (a homotetramer) to form the channel.

How prevalent is Gillespie Syndrome?

The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia.

Is Gillespie Syndrome an inherited disorder?

Gillespie syndrome can be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Gillespie Syndrome Local Doctors?
Elite
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Gillespie Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: February 01, 2019Published By: National Institutes of Health

What are the Latest Advances for Gillespie Syndrome?
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Tired of the same old research?
Check Latest Advances