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GENATLAS PHENOTYPE
last update : 06-03-2017
Symbol GTMS2
Location 1p36.13
Name Gitelman syndrome 2
Other name(s) hypokalemic alkalosis
Corresponding gene CLCNKB
Main clinical features
  • hypokalemic alkalosis in conjunction with hypocalciuria and hypomagnesemia, hypermagnesiuria, late age of presentation (>15 years) and normal growth
    • Genetic determination
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     arginine 438 to histidine (R438H), in exon 13
    Remark(s)