ZFIN Human Disease: Gitelman syndrome

OBO ID: DOID:0050450

Term Name:	Gitelman syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease renal tubular transport disease autosomal recessive disease renal tubular transport disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC12A3	slc12a3	Gitelman syndrome	263800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None