ATP6AP2-related disorder

ATP6AP2-related disorder is a rare condition caused by changes in a gene called ATP6AP2. These genetic variations have been linked to several overlapping conditions, including syndromic intellectual disability, a type of Parkinsonism with spasticity, and a congenital disorder of glycosylation. This means that people with changes in this gene can have a wide range of symptoms that affect different parts of the body. Not everyone with an ATP6AP2-related disorder will have all the symptoms, but many share common features such as delays in development, challenges with movement, and neurological issues. The condition can involve problems with intellectual development, seizures, and may even influence liver function and immune system responses. Research continues to better understand the full range of symptoms and differences among affected individuals.

People with ATP6AP2-related disorder may experience global developmental delays, intellectual disability, and progressive neurologic decline. Other features include spasticity, seizures, and signs of parkinsonism such as rigidity, resting tremor, and slowed movements. There may also be infantile onset of liver failure, recurrent infections, and dysmorphic features, although not everyone will show all of these symptoms.

This condition is linked to genetic variations in the ATP6AP2 gene. These changes can affect several body systems, which may result in the diverse range of symptoms seen in people with the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.