Gitelman syndrome
Information
- Disease name
- Gitelman syndrome
- Disease ID
- DOID:0050450
- Description
- "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)." [url:https\://ghr.nlm.nih.gov/condition/gitelman-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00822107 | Completed | N/A | A Translational Approach to Gitelman Syndrome | January 2009 | September 2013 |
| NCT01146197 | Completed | Phase 1/Phase 2 | Input of the Use of Indometacin in Gitelman Syndrome as Compared to Potassium Sparing Diuretics | February 2010 | January 2013 |
| NCT02297048 | Completed | Phase 4 | Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) | July 2014 | September 2015 |
| NCT04995627 | Recruiting | N/A | Salt Supplementation in Gitelman Syndrome | April 19, 2021 | July 1, 2024 |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 |
- Disase is a (Disease Ontology)
- DOID:447
- Cross Reference ID (Disease Ontology)
- GARD:8547
- Cross Reference ID (Disease Ontology)
- MESH:D053579
- Cross Reference ID (Disease Ontology)
- MIM:263800
- Cross Reference ID (Disease Ontology)
- NCI:C84730
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:3188003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268450
- Exact Synonym (Disease Ontology)
- HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
- OrphaNumber from OrphaNet (Orphanet)
- 358
- MeSH unique ID (MeSH (Medical Subject Headings))
- D053579