Disease

Bartter Syndrome

About the Disease
Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 5, antenatal, transient and bartter syndrome, type 4b, neonatal, with sensorineural deafness. An important gene associated with Bartter Disease is BSND (Barttin CLCNK Type Accessory Subunit Beta), 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, adrenal cortex and cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis

Common Targets
CLCNKB | Solute Carrier Family 12 (nonspecified subtype) | KCNJ1 | CFTR | SLC34A2 | BSND | SLC12A1 | CLCNKA

疾病靶点研报
Bartter Syndrome

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