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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Gitelman syndrome
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Accession:DOID:0050450 term browser browse the term
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). (DO)
Synonyms:exact_synonym: GTLMNS;   Gitelman's syndrome;   familial hypokalemia hypomagnesemia;   potassium and magnesium depletion;   primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria;   tubular hypomagnesemia hypokalemia with hypocalcuria
 primary_id: MESH:D053579
 alt_id: OMIM:263800
 xref: GARD:8547;   NCI:C84730

show annotations for term's descendants           Sort by:
Gitelman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO RGD PMID:11102542 RGD:1300379 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:8640224 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO DNA:snp:intron:IVS9+1G>T (human)
ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia
CTD Direct Evidence: marker/mechanism
PMID:8528245 PMID:8812482 PMID:8865231 PMID:8900229 PMID:8954067 More... RGD:1580588 NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Stk39 serine threonine kinase 39 ISS OMIM:263800 MouseDO NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISS OMIM:263800 MouseDO NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Gitelman syndrome 7
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            autosomal genetic disease 9299
              autosomal recessive disease 6336
                Gitelman syndrome 7
paths to the root