Amish, Mennonite, and Hutterite
Genetic Disorder Database

Gitelman Syndrome

Disorder
OMIM #: #263800  (Click to access OMIM database)
Disorder: Gitelman Syndrome 
Also known as: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA, POTASSIUM AND MAGNESIUM DEPLETION 
Clinical
Phenotype: hypokalemic alkalosis, hypocalciuria, hypomagnesemia, renal insufficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SLC12A3
Base Change: C>A, at nucleotide 1924
Amino Acid Change: arg 642 --> gly
2   Amish  
Gene: SLC12A3
Base Change: 8627 bp deletion
Amino Acid Change:
Last updated: 2010-07-20 

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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