📂 Diseases
Johanson-Blizzard syndrome — Definition
Johanson-Blizzard sendromu / Johanson-Blizzard syndrome
Johanson-Blizzard syndrome is a genetic disease with rare seen autozomal resessive transition. The main features include pancreas insufficiency, hypoplasia (alae nasi aplasia), hearing loss and intelligence retardation. The disease occurs as a result of mutations in the UBR1 gene and leads to deterioration in cellular processes with protein destruction. Clinical findings may be pronounced from birth and supportive treatment with early diagnosis (such as pancreas enzyme replacement) can improve quality of life.
Frequently Asked Questions
❓ What is Johanson-Blizzard sendromu?
Johanson-Blizzard sendromu; johanson-Blizzard syndrome is a genetic disease with rare seen autozomal resessive transition. The main features include pancreas insufficiency, hypoplasia (alae nasi aplasia), hearing loss and intelligence retardation. The disease occurs as a result of mutations in the UBR1 gene and leads to deterioration in cellular processes with protein destruction. Clinical findings may be pronounced from birth and supportive treatment with early diagnosis (such as pancreas enzyme replacement) can improve quality of life.
❓ What is Johanson-Blizzard syndrome in Turkish?
The Turkish equivalent of "Johanson-Blizzard syndrome" is Johanson-Blizzard sendromu.
❓ Which medical field is Johanson-Blizzard sendromu related to?
This term belongs to the Diseases category.