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ORPHA:358

Gitelman syndrome

medium confidenceDisorder

Publications

8,522

94.6th percentile

Trials

5

Interventional, condition-specific

Researchers

1,009

Distinct authors in sample

Gene link

SLC12A3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome characterized by hypokalemic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria · primary renal tubular hypokalemic hypomagnesemia with hypocalciuria

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SLC12A3

  2. LiteraturePresent

    8,522 matched papers (5,043 in last 10 years) Source

  3. Phenotype characterisedPresent

    104 HPO annotations (e.g. Paralysis; Failure to thrive; Muscle spasm) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SLC12A3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

104

Associated phenotypes · MONDO:0009904

  • Paralysis
  • Failure to thrive
  • Muscle spasm
  • Ataxia
  • Constipation

Showing 5 of 104 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0009904

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,522

8,522 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,522 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,043 in the last 10 years · medium confidence · 94.6th percentile (publications denominator)

Phrase hits: 1,684 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,009

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Zhang Y8 papers · 2026

    Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, 510120, China.

    Papers in Europe PMC
  2. 02
    Li X6 papers · 2025

    Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Mou L6 papers · 2025

    Department of Nephrology, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  4. 04
    Wang Y6 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

    Papers in Europe PMC
  5. 05
    Yang J6 papers · 2026

    State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2026

    Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China.

    Papers in Europe PMC
  7. 07
    Zhang L5 papers · 2025

    Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China, sarahzhl@163.com.

    Papers in Europe PMC
  8. 08
    Blanchard A4 papers · 2025

    Reference Center for Hereditary Kidney and Childhood Diseases (Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, MARHEA), Paris, France.

    Papers in Europe PMC
  9. 09
    Houillier P4 papers · 2025

    Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.

    Papers in Europe PMC
  10. 10
    Li Z4 papers · 2026

    Department of Endocrinology, Shandong Provincial Hospital, Shandong University, Jinan, 250021, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

medium confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Gitelman syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Gitelman syndrome" OR "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" OR "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria") OR ("SLC12A3" OR "SLC12A3 syndrome" OR "SLC12A3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Gitelman syndrome" OR "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" OR "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:32:35.618Z