Definition of Single gene disease
Single gene disease: Any genetic disorder caused by a change affecting only one gene.
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.
Last Editorial Review: 6/14/2012
Back to MedTerms online medical dictionary A-Z List
Need help identifying pills and medications?
Get the latest health and medical information delivered direct to your inbox FREE!