Bartter Syndrome, Type 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.

**Synonyms:** - BARTS1 - Hyperprostaglandin E Syndrome 1 - Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal - Type 1 Bartter Syndrome