Amish, Mennonite, and Hutterite
Genetic Disorder Database

Chronic Granulomatous Disease

Disorder
OMIM #: #306400  (Click to access OMIM database)
Disorder: Chronic Granulomatous Disease 
Also known as: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, CHRONIC GRANULOMATOUS DISEASE, X-LINKED 
Clinical
Phenotype: respiratory tract infections, lymphadenopathy, failure to thrive, cell-mediated immunodeficiency, splenomegaly, recurrent infections 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CYBB
Base Change: C>A, at nucleotide 1335
Amino Acid Change: cys 445 --> term
2   Amish  
Gene: CYBB
Base Change: G>A, at nucleotide 1222
Amino Acid Change:
Last updated: 2019-07-03 

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

Back