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Definition of Single gene disease
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Single gene disease: Any genetic disorder caused by a change affecting only one gene.
There are thousands of single-gene diseases including achondroplasia, cystic fibrosis, hemophilia, Huntington disease, muscular dystrophy, and sickle cell disease .
Single-gene diseases usually follow simple Mendelian patterns of inheritance -- autosomal dominant, an autosomal recessive, or an X-linked.
Single gene diseases are as opposed to polygenic diseases which are caused by a combination of two or more genes.