Skip navigation

Disease Gitelman Syndrome

Name Gitelman Syndrome
Synonyms Familial Hypokalemia Hypomagnesemia | Familial Hypokalemia-Hypomagnesemia | Gitelman's Syndrome | GTLMNS | Hypokalemia-Hypomagnesemia, Familial | Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria | Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria | Potassium and Magnesium Depletion | Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria | Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria | Syndrome, Gitelman | Syndrome, Gitelman's | Tubular Hypomagnesemia Hypokalemia with Hypocalcuria | Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria
Definition An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Categories Genetic disease (inborn) | Metabolic disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D053579
OMIM® ID 263800
External Links

Top ↑ Ancestors

1. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Gitelman Syndrome Has associated chemicals Has associated genes
2. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Gitelman Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Gitelman Syndrome Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Gitelman Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.