An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. [ NCI ]

Synonyms: Gitelman Syndrome

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Term information

Subsets

NCIT_C90259, NCIT_C123272, NCIT_C165258

ALT DEFINITION

An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.

Contributing Source

Cellosaurus

NICHD

Preferred Name

Gitelman Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0268450

code

C84730

Term relations