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Disease

Gitelman Syndrome

Clinical development underwayEmerging research
1
Publications
2
Clinical trials
2
Associated genes
1
Related proteins
2017
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Clinical trials

2 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
2
All trials
0
Active
0
Late-stage
2
Completed
Recently completed
N/A · Completed · Oregon Health and Science University

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Major themes1
  • Dietary Supplements1
Leading journals1
  • Kidney international1
Leading researchers8
  • Blanchard A1
  • Bockenhauer D1
  • Bolignano D1
  • Calò LA1
  • Cosyns E1
  • Devuyst O1
  • Ellison DH1
  • Karet Frankl FE1
Affiliations (unnormalised)6
  • Center for Molecular Medicine1
  • Centre d'Investigation Clinique1
  • Centre for Nephrology1
  • Institute of Clinical Physiology1
  • Institute of Physiology1
  • Oregon Health and Science University1

Associated genes

2 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.