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
External Links
Disease Ontology
DOID:0110144
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1188 CLCNKB chloride voltage-gated channel Kb
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12733 Clcnka chloride channel, voltage-sensitive Ka
56365 Clcnkb chloride channel, voltage-sensitive Kb
Displaying 1 entry
Gene ID Gene Symbol Description Source
79430 Clcnkb chloride voltage-gated channel Kb
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
378616 clcnkb.L chloride channel, voltage-sensitive Kb L homeolog Xenopus laevis (African clawed frog)

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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: August 19, 2024