Bartter Disease

Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 4a, neonatal, with sensorineural deafness and bartter syndrome, type 5, antenatal, transient. An important gene associated with Bartter Disease is KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Acetazolamide and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include Kidney and adrenal cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis