CLCNKB, chloride voltage-gated channel Kb, 1188

N. diseases: 139; N. variants: 24
Disease: Gitelman Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome. 31506066 2019
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 Biomarker disease BEFREE According to the STRING database, SLC12A3 and CLCNKB proteins may interact or coexpress with proteins associated with GS. 30999883 2019
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE Since mutations in the SLC12A3 and CLCNKB genes are not present in all patients with clinical manifestations of Gitelman syndrome, genetic screening after clinical diagnosis is essential. 27173320 2016
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE The analysis of CLCNKB showed four putative mutations in the GS pool that were further assigned to specific patients. 24830959 2014
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3. 23345488 2013
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GermlineCausalMutation disease ORPHANET Gitelman syndrome due to p.A204T mutation in CLCNKB gene. 20931281 2010
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE This study revealed the following characteristics of these disorders: 1) subjects with CLCNKB mutations showed one or more biochemical features of Gitelman syndrome (including hypomagnesemia, hypocalciuria, and fractional chloride excretion insensitivity to thiazide administration); and 2) subjects with KCNJ1 mutations appeared to show normal fractional chloride excretion sensitivity to furosemide and thiazide administration. 20810575 2010
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE Gitelman syndrome due to p.A204T mutation in CLCNKB gene. 20931281 2010
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GermlineCausalMutation disease ORPHANET [Generalized seizures as onset of Gitelman's syndrome]. 19265611 2009
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GermlineCausalMutation disease ORPHANET Gitelman syndrome. 18667063 2008
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE We searched for SLC12A3 and CLCNKB gene mutations in 13 Chinese patients (9 males and 4 females, age 35 +/- 14 years) from 8 unrelated families with the clinical and biochemical features of GS. 18287808 2008
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GeneticVariation disease BEFREE The exact role of the CLCNKB R438H mutation in the pathogenesis of the electrolyte and mineral abnormalities in GS and CBS remains to be established. 12472765 2003
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 Biomarker disease BEFREE However, the relationship between the alterations in the NO signalling system observed in this study and the mutations in either Na+-K+-2Cl cotransporter or in a K+ channel ROMK or in Cl- channel ClCNKB in Bartter's syndrome and in Na+-Cl- cotranstransporter in Gitelman's syndrome, recently reported as their primary defects remains to be defined. 9988141 1999