Amish, Mennonite, and Hutterite
Genetic Disorder Database

Bartter Syndrome, Type 3

Disorder
OMIM #: #607364  (Click to access OMIM database)
Disorder: Bartter Syndrome, Type 3 
Also known as: BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED 
Clinical
Phenotype: short stature, metabolic alkalosis, hypercalciuria, dehydration, polydipsia, polyuria, hypocalcemia, hypokalemia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CLCNKB
Base Change: 22,508bp deletion
Amino Acid Change:
Last updated: 2017-11-03 

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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