Genetic Disorders

What are genetic disorders?

Genetic disorders are health conditions caused by changes (also called mutations or variants) in your genes. Genes are parts of DNA found in your cells that carry instructions for how your body grows, develops, and functions. Many genes tell your body how to make proteins, which are needed for your body to work properly.

What causes genetic disorders?

A genetic disorder happens when a gene variant changes how a protein is made. The variant may cause the protein to work poorly or not be made at all. If genes don't make the right proteins, or don't make them correctly, it can lead to a genetic disorder.

Not all gene changes cause disease. Often, these changes have no effect. But sometimes, even a small change in DNA can affect how proteins are made.

Gene variants can be grouped into two main types:

• Inherited variants (also called germline variants) are passed down from your parents. They come from egg or sperm cells.
• Non-inherited (also called somatic variants) are not passed down from your parents. They happen during your lifetime. They may be caused by things like harmful chemicals or ultraviolet (UV) rays from the sun.

What are the types of genetic disorders?

Genetic disorders may be caused by:

• Single gene disorders are caused by changes in one gene. Examples can include sickle cell anemia, where a change in a single gene can cause the condition, and Charcot-Marie-Tooth disease, where a variant in one of many different genes can cause the condition.
• Chromosomal disorders are caused by missing, extra, or altered chromosomes. Chromosomes are structures that carry genes. These disorders involve changes in the number of chromosomes people have or changes in the structure of one or more chromosomes. An example is Down syndrome, which is caused by an extra copy of chromosome 21.
• Complex (multifactorial) disorders are caused by changes in many genes. Each change alone may not cause the disease, but together they increase the risk. Lifestyle and environmental factors, such as exercise, diet, or exposure to pollutants, also play a role. Colon cancer is an example.

What are the different ways a genetic disorder can be inherited?

Some genetic conditions are passed down through families (inherited) in one of several patterns, depending on the specific gene involved.

Patterns of inheritance can include:

• Dominant means you only need one changed gene to cause the condition.
• Recessive means you need two changed copies of the gene (one from each parent) for the condition to occur.
• X-linked conditions involve genes located on the X chromosome. These conditions often affect males more frequently.
• Mitochondrial conditions are passed down by the mother.

How are genetic disorders diagnosed?

Your health care provider may check for a genetic condition based on:

• A physical examination.
• Your personal medical history.
• Your family health history.
• Laboratory tests, including genetic testing.

NIH: National Library of Medicine

Questions for your care team

General prompts to help prepare for your appointment.

• How does this information apply to my situation?
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• Which tests are useful, and what can they tell us?
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