Health Topic

Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected.

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Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.

About 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.

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.

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.

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.

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.

It sits within Genetics/Birth Defects.

The lead U.S. institute for this subject is the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.

Research on Genetic Disorders

20,229 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.

What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.

Research currently under way

Research already completed

Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.

Where to read more

Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.

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Diagnosis and Tests

Treatments and Therapies

Related Issues

Statistics and Research

Clinical Trials

Medical subject headings

Clinicians and researchers index this subject under Genetic Diseases, Inborn. These are the terms to use when searching medical literature.

This page is built from the MedlinePlus health topic record for Genetic Disorders, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.