Amish, Mennonite, and Hutterite
Genetic Disorder Database

Vitamin B12 Deficiency

Disorder
OMIM #: #261100  (Click to access OMIM database)
Disorder: Vitamin B12 Deficiency 
Also known as: MEGALOBLASTIC ANEMIA 1, PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA, IMERSLUND-GRASBECK SYNDROME
IGS, ENTEROCYTE COBALAMIN MALABSORPTION, ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF 
Clinical
Phenotype: anemia, megaloblastic anemia, peripheral neuropathy, gait abnormalities, depression, neurologic dysfunction 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite  
Gene: AMN
Base Change: 43 bp deletion
Amino Acid Change: Frame shift
Last updated: 2019-07-03 

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

Back