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Bartter disease type 4a

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Mondo Description Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.
Uniprot Description A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0011242:  Bartter disease type 4a
SCTID:717791000: 
UMLS:C1865270: