Genetic Diseases
Also known as: genetic conditions, genetic disorders, hereditary diseases, hereditary disorders, inheritance disorders
What are genetic diseases?
Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells. Genetic diseases can be caused by a change to a single gene, many genes or damage to the overall chromosomes that carry the genes.
What causes genetic diseases?
Some genetic diseases are hereditary, which means they are passed along from parents to children. Others are caused by genes that start out normally but then mutate at some point later in life, either on their own or due to exposure to some toxin. In many cases, a combination of different factors leads to the gene mutation.
What are the symptoms of genetic diseases?
There are hundreds upon hundreds of genetic disorders, so the symptoms can vary widely depending on the type of disorder. The symptoms can range from very mild symptoms that are easy to live with to severe, life-threatening medical conditions.
What are genetic disease care options?
In most cases, genetic disorders cannot be cured or reversed. Quite a few, however, can be managed with supportive care and treatment of symptoms.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: February 05, 2020 03:09 PM
Learn more about
Congenital Heart Defects/Disease
Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly.
Learn more
CDKL5 Disorder
CDKL5 (Cyclin-Dependent Kinase-Like 5) is a gene located on the X-chromosome. The CDKL5 gene is required to function normally for a normal brain to develop.
Learn more
Multiple Endocrine Neoplasia Type 1 and 2
Multiple endocrine neoplasia type 1 is a disease that affects several glands throughout the body, including the thyroid, parathyroid and pituitary gland. It causes tumors in these glands and also imbalances in the hormones that the glands produce. The pancreas and small intestine are also impacted by the disease.
Learn more
Genetic Counseling
Genetic counseling is a counseling session for parents or prospective parents to help them understand their risk of passing along genes and birth defects to children.
Learn more
Basic Genetic Testing
Basic genetic testing is a medical screening or diagnostic test that examines an individual's genes and chromosomes.
Learn more
