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Gitelman syndrome

Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene.…

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Causes
Mutations in SLC12A3, CLCNKB, MT-TI, MT-TF
Other names
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Specialty
Nephrology

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Gitelman syndrome

Nodes68
Edges67
Triples99
Avg. degree1.97
Density0.029412
Components1

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Gitelman syndrome

Top relations

related to Differential diagnosis · 26
Gitelman syndrome → Bartter, CLCNKB, Disease-causing, Diuretic, DNA, EAST, Gitelman, Gitelman-like, In Gitelman, Lastly, Laxative, Many, Medication, MT-TF, MT-TI, Primary, Proton-pump, Renal, RNAs, Secondly
related to Diagnosis · 13
Gitelman syndrome → BMP, CMP, Diagnosis, Electrolyte, Genetic, Gitelman, Other, SLC12A3, Symptom, The, This, Urinary, When
related to Signs and symptoms · 12
Gitelman syndrome → Abnormal, Affected, Clinical, Gitelman, Gordon's, In, Individuals, More, QT, Quality, Symptomatic, Though
related to External links · 11
Gitelman syndrome → Clinician Resource, Gitelman, Gitelman Syndrome Online Resource, Gitelman Syndrome UK, Medical Professionals, Medicine, MedlinePlus, National Gitelman Association, National Library, Online Resource, Patient
has treatment · 9
Gitelman syndrome → Aldosterone, Diarrhea, Dietary, Gitelman, However, Large, Most, Severe, To
related to Cause · 8
Gitelman syndrome → Gitelman, In, It, NCC, SLC12A3, The, This, Thus
related to Epidemiology · 7
Gitelman syndrome → Estimates, Gitelman, Heterozygous, However, SLC12A3, The, This
Causes · 1
Gitelman syndrome → Mutations in SLC12A3, CLCNKB, MT-TI, MT-TF
Other names · 1
Gitelman syndrome → Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Specialty · 1
Gitelman syndrome → Nephrology

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Important terminology

gitelman syndrome slc12a3 potassium magnesium gene tubule levels distal convoluted ncc low sodium chloride symptoms variants patients blood electrolyte genetic

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Gitelman syndromeCausesMutations in SLC12A3, CLCNKB, MT-TI, MT-TF1.00infobox
Gitelman syndromeOther namesPrimary renal tubular hypokalemic hypomagnesemia with hypocalciuria1.00infobox
Gitelman syndromeSpecialtyNephrology1.00infobox
seizuresinstance ofMore severe symptoms0.80text
tetanyinstance ofMore severe symptoms0.80text
and paralysis have been reportedinstance ofMore severe symptoms0.80text
gentamicin can cause a transient metabolic alkalosis with hypokalaemiainstance ofand aminoglycosides0.80text
hypomagnesaemia that resolves 2instance ofand aminoglycosides0.80text
amiloride have also been suggested as possible treatmentsinstance ofor epithelial sodium channel blockers0.80text
because they decrease urinary wasting of potassiuminstance ofor epithelial sodium channel blockers0.80text
infantsinstance ofMost asymptomatic individuals with Gitelman syndrome can be monitored without medical treatment.In patients with early onset of the disease0.80text
childreninstance ofMost asymptomatic individuals with Gitelman syndrome can be monitored without medical treatment.In patients with early onset of the disease0.80text

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