single-gene disorder

single-gene disorder

a disease or condition that is due to the presence of a single mutated gene. Generally, the single mutation causes a failure to synthesize a normally functioning enzyme that is required for a specific step in building body tissue or for a vital stage in the metabolism of a food component. Single-gene disorders are relatively rare (Huntington’s disease and sickle-cell disease are examples); instead, many diseases exhibit multifactorial inheritance and are also influenced by environmental factors.