Bartter disease type 3

Summary
Synonym
  • BARTS3
  • Bartter syndrome type 3
  • classic Bartter syndrome
Definition
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.
Super Class
Bartter disease
Disease Ontology
DOID:0110144
Mondo Disease Ontology
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1188 CLCNKB chloride voltage-gated channel Kb
Displaying 1 entry
Gene ID Gene Symbol Description Source
56365 Clcnkb chloride channel, voltage-sensitive Kb
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51801 Chloride channel protein ClC-Kb
Displaying 1 entry
UniProt ID Protein Name Source
Q9WUB6 Chloride channel protein ClC-Kb

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025