Monogenic - Definition and Overview

In genetics, monogenic genetic disorders are hereditary diseases that result from abnormalities in one (mono) gene. Inheritance can be either autosomal dominant, X-linked or recessive, but is generally more predictable than polygenic disorders, which in turn can vary in severity through combinations of several genes.

Examples of monogenic disorders are:

• Cystic fibrosis - autosomal recessive
• Sickle-cell anemia - autosomal recessive
• Glucose-6-phosphate dehydrogenase deficiency (G6PD) - X-linked
• Polycystic kidney disease - recessive and dominant forms