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GENATLAS PHENOTYPE
last update : 06-03-2017
Symbol BSND3
Location 1p36.13
Name Bartter syndrome, type 3
Other name(s) Bartter syndrome, classic
Corresponding gene CLCNKB
Other symbol(s) CLCNKB, BARTS3
Main clinical features
  • hypokalemic metabolic acidosis and renal salt wasting, and a highly variable phenotype ranging from episodes of severe dehydratation in neonatal period to almost asymptomatic patients during adolescence
  • antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period; classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic
  • Genetic determination autosomal recessive
    Related entries BSND1, BSND2, BSND4
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name chloride voltage-gated channel B
    Remark(s)