Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glycogen storage disease IV

Disorder
OMIM #: #232500  (Click to access OMIM database)
Disorder: Glycogen storage disease IV 
Also known as: GSD IV
Glycogen branching enzyme deficiency
Andersen disease
Brancher deficiency
Glycogenosis IV
Amylopectinosis
Cirrhosis, familial, with deposition of abnormal glycogen 
Clinical
Phenotype:  
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: GBE1
Base Change: c.672_681del10insG
Amino Acid Change:
2   Old Order Mennonite  
Gene: GBE1
Base Change: c.691+2T>C
Amino Acid Change: splicing
Last updated: 2018-10-12 

References
 

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