Monogenic

Monogenic disorders are types of genetic disorders that are caused by the mutation or alterations in a single gene. They are also known as single-gene disorders. These disorders can be passed on to subsequent generations in several ways.

Types of Monogenic Disorders

Monogenic disorders are categorized into three types: autosomal dominant, autosomal recessive, and X-linked.

Autosomal Dominant

In autosomal dominant disorders, a single copy of the disease-associated mutation is enough to cause the disease. This can be inherited from a parent who has the disorder. Examples of autosomal dominant disorders include Huntington's disease and Marfan syndrome.

Autosomal Recessive

Autosomal recessive disorders require both copies of the gene to have the mutation for the person to have the disease. These disorders often occur when both parents carry and pass on the faulty gene, even if they themselves do not show signs of the disease. Examples of autosomal recessive disorders include cystic fibrosis and sickle cell disease.

X-linked

X-linked disorders are caused by mutations in genes on the X chromosome. Males are more likely to have X-linked disorders because they have only one X chromosome and therefore, all X-linked mutations are expressed. Examples of X-linked disorders include hemophilia and Duchenne muscular dystrophy.

Diagnosis and Treatment

Diagnosis of monogenic disorders can often be made by clinical observation, family history, and genetic testing. Treatment varies depending on the specific disorder and may include dietary restrictions, medications, surgery, or gene therapy.

See Also

• Genetic disorder
• Autosomal dominant
• Autosomal recessive
• X-linked