Britannica
Sources used in this answer
Which disorders can be inherited in an X-linked pattern?
Created from Britannica articles
using AI.
AI can make mistakes, so verify using Britannica articles.
human genetic disease
Photomicrograph of the BRCA2 tumor suppressor gene on chromosome 13 of the human genome. Inactivation of this growth-regulating gene is associated with a higher risk of developing breast cancer.
In the context of human pathology, X-linked disorders are conditions caused by mutations in genes located on the X chromosome. Because males possess only one X chromosome, they express these mutations regardless of whether the trait is dominant or recessive, as they lack a second X chromosome to provide a functional copy of the gene.123
Common examples of X-linked disorders include:
- Hemophilia: A bleeding disorder, specifically hemophilia A, which is a well-known X-linked recessive condition.134
- Duchenne muscular dystrophy: A severe form of muscular dystrophy.51
- Red-green colour blindness: A common trait resulting from X-linked recessive inheritance.534
- Fragile-X syndrome: A genetic condition associated with intellectual disability.5
- Lesch-Nyhan syndrome: A disorder of purine metabolism.2
- Ornithine transcarbamylase deficiency: An enzyme deficiency affecting urea formation.2
- X-linked adrenoleukodystrophy: A condition characterized by progressive neurological and physical deterioration.2
While X-linked recessive diseases are relatively common, X-linked dominant disorders are considered rare.1