Genetic disorders occur when a mutation affects your genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders.
Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.
You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.
Genetic disorders can be:
There are many types. They include:
Genetic disorders may also cause rare diseases. This group of conditions affects fewer than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.
Rare genetic disorders include:
To understand genetic disorder causes, it’s helpful to learn more about how your genes and DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins start complex cell interactions that help you stay healthy.
When a mutation occurs, it affects the genes’ protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include:
Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may experience:
If you have a family history of a genetic disorder, you may wish to consider genetic counseling to see if genetic testing is appropriate for you. Lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation does not always mean you’ll end up with it. Genetic counselors can explain your risk and if there are steps you can take to protect your health.
If there’s a family history, DNA testing for genetic disorders can be an important part of starting a family. Options include:
Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment that’s right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early.
You may need:
There is often little you can do to prevent a genetic disorder. But genetic counseling and testing can help you learn more about your risk. It can also let you know the likelihood of passing some disorders on to your children.
Some conditions, including certain rare and congenital diseases, have a grim prognosis. Children born with anencephaly typically survive only a few days. Other conditions, like an isolated cleft lip, do not affect lifespan. But you may need regular, specialized care to stay comfortable.
When you are living with a genetic disorder, you may have frequent medical needs. It’s important to see a healthcare provider specializing in the condition. They are more likely to know which treatments are best for your needs.
You may also benefit from the support of others. Genetic disorders often have local or national support groups. These organizations can help you access resources that make life a little easier. They may also host events where you can meet other families going through similar challenges.
A note from Cleveland Clinic
Genetic disorders occur when a mutation affects your genes or chromosomes. Some disorders cause symptoms at birth, while others develop over time. Genetic testing can help you learn more about the likelihood of experiencing a genetic disorder. If you or a loved one have a genetic disorder, it’s important to seek care from an experienced specialist. You may be able to get additional information and help from support groups.
Last reviewed by a Cleveland Clinic medical professional on 08/20/2021.
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