Bartter disease type 4b

Summary
Synonym
  • BARTS4B
  • Bartter syndrome, type 4b, digenic
  • neonatal Bartter syndrome type 4B with sensorineural deafness
Definition
A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.
Super Class
Bartter disease
Disease Ontology
DOID:0110146
Mondo Disease Ontology
OMIM
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: December 9, 2024