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Defective SLC12A3 causes Gitelman syndrome (GS)
Stable Identifier
R-HSA-5619087
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLC12A3 causes Gitelman syndrome (GS) (Homo sapiens)
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The SLC12A3 gene encodes for the Thiazide-sensitive sodium-chloride cotransporter (TSC). TSC mediates sodium and chloride removal from the distal convoluted tubule of the kidney. Defects in SLC12A3 are the cause of Gitelman syndrome (GS aka familial hypokalemic hypomagnesemia; MIM:263800). GS is an autosomal recessive disorder characterised by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. Patients can present with periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. GS has overlapping features with Bartter syndrome (caused by defects in SLC12A1). This cotransporter is the major target for thiazide-type diuretics, used in the treatment of hypertension, extracellular fluid overload and renal stone disease (Nakhoul et al. 2012).
Literature References
PubMed ID
Title
Journal
Year
22169961
Gitelman's syndrome: a pathophysiological and clinical update
Berger, L
,
Nakhoul, N
,
Nakhoul, F
,
Dorman, E
,
Magen, D
,
Skorecki, K
Endocrine
2012
Participants
Events
Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol
(Homo sapiens)
Participates
as an event of
SLC transporter disorders (Homo sapiens)
Disease
Name
Identifier
Synonyms
Gitelman syndrome
DOID:0050450
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Cross References
BioModels Database
BIOMD0000000327
,
BIOMD0000000054
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
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