Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a JAG1 point mutation is a rare genetic condition that affects many body systems. It is caused by a change in the JAG1 gene and can impact the liver, heart, skeleton, eyes, and kidneys. People with this condition may have varied clinical features and the severity of symptoms can differ from person to person. This condition is also known by several other names including Alagille syndrome type 1, Alagille-Watson syndrome, and arteriohepatic dysplasia, among others. The involvement of multiple organ systems means that health care providers from different specialties may work together to understand and manage the condition.

The clinical signs of this condition can vary widely. People with Alagille syndrome due to a JAG1 point mutation might experience liver problems such as cholestasis, as well as heart issues, skeletal abnormalities, vision changes, and kidney problems. The range of symptoms reflects the involvement of different organ systems.

Alagille syndrome due to a JAG1 point mutation is caused by a genetic change in the JAG1 gene. This mutation affects the normal development and function of several organs. The genetic nature of this condition means that it is inherited and can be passed on from parent to child.

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.