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MIRAGE
Gitelman syndrome
Summary
- Synonym
-
- HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
- Definition
- A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
- Super Class
- autosomal recessive disease renal tubular transport disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51801 | Chloride channel protein ClC-Kb | |
| P55017 | Solute carrier family 12 member 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P59158 | Solute carrier family 12 member 3 | |
| Q80UE6 | Serine/threonine-protein kinase WNK4 |
