Renal Tubulopathies and related disorders

Gene: SLC12A3

Green List (high evidence)

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most individuals have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.

Well established gene-disease association.

Created: 21 Apr 2022, 9:33 p.m. | Last Modified: 21 Apr 2022, 9:33 p.m.

Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gitelman syndrome, MIM# 263800

Publications

• 8528245
• 11102542