Monogenic disorder

Monogenic disorder is a type of genetic disorder that results from modifications in a single gene occurring in all cells of the body. Though relatively rare, they affect millions of people worldwide. Scientists currently estimate that over 10,000 of human diseases are known monogenic disorders. These disorders are also known as Mendelian disorders after the geneticist Gregor Mendel.

Causes

Monogenic disorders are caused by a mutation in a single gene. The mutation may be present on one or both chromosomes (one chromosome inherited from each parent). There are two types of monogenic disorders: dominant and recessive. Dominant disorders are caused by a mutation in one gene copy while recessive disorders are caused by mutations in both gene copies.

Types

There are several types of monogenic disorders including:

• Cystic fibrosis: This is a recessive type of monogenic disorder that affects the lungs and digestive system.
• Sickle cell anemia: This is a recessive type of monogenic disorder that affects the red blood cells.
• Huntington's disease: This is a dominant type of monogenic disorder that affects the nervous system.

Diagnosis

Diagnosis of monogenic disorders can be challenging due to the wide range of symptoms and features that they may cause. However, they can often be diagnosed through genetic testing which can identify changes or mutations in genes.

Treatment

Treatment for monogenic disorders depends on the specific disorder and the symptoms that are present. Some treatments may include dietary restrictions, medications, surgery, or physical therapy.

See also

• Genetic disorder
• Polygenic disorder
• Chromosomal disorder

References

Monogenic disorder Resources
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