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Bartter disease type 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.
Uniprot Description An X-linked recessive form of Bartter syndrome, a 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. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.
Disease Ontology Description A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11.
Mondo Term and Equivalent IDs
MONDO:0010503:  Bartter disease type 5
UMLS:C4310820: