SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 170; N. variants: 31
Disease: Hypocalciuria ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. 29378538 2018
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. 27783806 2016
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. 26260218 2016
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations, which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia and hypocalciuria. 21753071 2011
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 AlteredExpression phenotype BEFREE Gitelman's syndrome (GS), an autosomal recessive disorder caused by a defect of the thiazide-sensitive Na-Cl cotransporter (TSC) at the distal tubule, is characterized by hyperreninemic hyperaldosteronism with normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. 16075932 2005
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 Biomarker phenotype BEFREE Hypocalciuria is generally believed to be a pathognomonic finding of NCCT malfunction. 15531551 2004
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). 12590198 2002
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter (TSC) gene mutations. 10616841 2000
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome, in which hypocalciuria and hypomagnesaemia are notable features. 9690036 1998
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.200 GeneticVariation phenotype BEFREE Pathogenesis remained uncertain until recently Gitelman's syndrome, the hypokalemic-hypomagnesemic variant with hypocalciuria, was linked to the gene encoding the thiazide-sensitive Na-Cl-cotransporter (TSC) located on chromosome 16q. 8897553 1996