Gitelman syndrome

Term ID

DOID:0050450

Synonyms

• 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). https://ghr.nlm.nih.gov/condition/gitelman-syndrome

References

• GARD:8547
• MESH:D053579
• NCI:C84730
• OMIM:263800
• SNOMEDCT_US_2023_03_01:3188003
• UMLS_CUI:C0268450

Ontology

Human Disease   ( DOID:0050450 )