Alpha-1 antitrypsin deficiency
- Other Names:
A1AT deficiency; AAT deficiency; AATD; Alpha 1 antitrypsin deficiencyA1AT deficiency; AAT deficiency; AATD; Alpha 1 antitrypsin deficiency
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
Alpha-1 antitrypsin deficiency is a genetic disease, which means that it is caused by one or more genes not working correctly.
Disease causing variants in the following gene(s) are known to cause this disease: SERPINA1
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Last Updated: Nov. 8, 2021