📂 Diseases
Alagille syndrome — Definition
Alagille sendromu / Alagille syndrome
Alagille syndrome is a genetic disease characterized by insufficient development of bile channels in the liver (safra channel hypoplasia), autozomal dominant transition. Clinical findings include chronic colestase, heart anomalies (especially pulmonary stenosis), bone anomalies that resemble the vertebra in the form of the spine butterfly, and embryotoxicone in the eye. The disease is caused by mutations in JAG1 or NOTECH2 genes and requires multidisciplinary tracking due to multisystemic retention.
Frequently Asked Questions
❓ What is Alagille sendromu?
Alagille sendromu; alagille syndrome is a genetic disease characterized by insufficient development of bile channels in the liver (safra channel hypoplasia), autozomal dominant transition. Clinical findings include chronic colestase, heart anomalies (especially pulmonary stenosis), bone anomalies that resemble the vertebra in the form of the spine butterfly, and embryotoxicone in the eye. The disease is caused by mutations in JAG1 or NOTECH2 genes and requires multidisciplinary tracking due to multisystemic retention.
❓ What is Alagille syndrome in Turkish?
The Turkish equivalent of "Alagille syndrome" is Alagille sendromu.
❓ Which medical field is Alagille sendromu related to?
This term belongs to the Diseases category.