Amish, Mennonite, and Hutterite
Genetic Disorder Database

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 lung disease, emphysema, liver disease, cirrhosis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SERPINA1
Base Change: G>A, at nucleotide 1096
Amino Acid Change: glu 342 --> lys
Last updated: 2018-10-16 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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