Naming genetic conditions

Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee). Doctors who treat families with a new, previously unknown disorder are often the first to propose a name for the condition. Later, healthcare professionals, researchers, people affected by the condition, and other interested individuals may come together to revise the name to improve its usefulness. Naming is important because it allows accurate and effective communication about particular conditions, which will ultimately improve care and help researchers find new approaches to treatment.

Condition names are often derived from one or a combination of sources:                        

• The basic genetic or biochemical defect that causes the condition (for example, alpha-1 antitrypsin deficiency);

• The gene in which the variant (or mutation) that causes the condition occurs (for example, TUBB4A-related leukodystrophy);

• One or more major signs or symptoms of the disorder (for example, hypermanganesemia with dystonia, polycythemia vera, and cryptogenic cirrhosis);

• The parts of the body affected by the condition (for example, brain-lung-thyroid syndrome);

• The name of a physician or researcher, often the first person to describe the disorder (for example, Marfan syndrome, which was named after Dr. Antoine Bernard-Jean Marfan);

• A geographic area (for example, familial Mediterranean fever, which occurs mainly in populations bordering the Mediterranean Sea); or

• The name of a patient or family with the condition (for example, amyotrophic lateral sclerosis is often called Lou Gehrig disease after the famous baseball player who was diagnosed with the condition).        

Conditions named after a specific person are called eponyms. They can be in the possessive form (e.g., Alzheimer’s disease) or in the nonpossessive form (e.g., Down syndrome).

Naming genes

The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol (an abbreviation of the name) for each known human gene. The HGNC is a nonprofit organization funded by the U.S. National Human Genome Research Institute and the UK's Wellcome Trust. The Committee has named more than 19,000 of the estimated 20,000 to 25,000 protein-coding genes in the human genome.

During the research process, genes often acquire several alternate names and symbols from researchers investigating the same gene. To resolve this confusion, the HGNC assigns a unique name and symbol to each human gene, which allows effective organization of genes in large databanks, aiding the advancement of research. For specific information about how genes are named, refer to the HGNC's Guidelines for Human Gene Nomenclature.