Bartter syndrome

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Information
Disease name
Bartter syndrome
Disease ID
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
SLC12A1 15 48,191,682 48,304,078 44
CLCNKB 1 16,040,252 16,057,279 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT06065852 Recruiting National Registry of Rare Kidney Diseases November 6, 2009 December 31, 2039
NCT03847571 Unknown status Acetazolamide (AZ) for Management of Alkalosis in Bartter Syndrome January 10, 2019 December 30, 2019
OMIM Phenotype Series Number (OMIM)
PS601678
OrphaNumber from OrphaNet (Orphanet)
112
MeSH unique ID (MeSH (Medical Subject Headings))
D001477