Alpha-1 antitrypsin deficiency
| Disorder | |
|---|---|
| OMIM #: | #613490 (Click to access OMIM database) |
| Disorder: | Alpha-1 antitrypsin deficiency |
| Also known as: | A1ATD |
| Clinical | |
| Phenotype: | chronic obstructive pulmonary disease, dyspnea, emphysema, liver disease, cirrhosis (rare) |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SERPINA1 |
| Base Change: | G>A, at nucleotide 1096 |
| Amino Acid Change: | glu 342 --> lys |
| Last updated: | 2022-11-01 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
Back