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ORPHA:53689

Congenital chloride diarrhea

low confidenceDisorder

Publications

1,945

Trials

0

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

SLC26A3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and alkalosis, resulting in chronic dehydration and . Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

SLC26A3 secretory diarrhea · SLC26A3 secretory diarrhoea · congenital chloridorrhea · congenital secretory chloride diarrhea type 1 · congenital secretory chloride diarrhoea type 1 · secretory diarrhea caused by mutation in SLC26A3 · secretory diarrhoea caused by mutation in SLC26A3

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC26A3

  2. LiteraturePresent

    1,945 matched papers (1,173 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Alkalosis; Increased circulating renin concentration; Growth abnormality) Source

  4. Animal modelPresent

    1 genotype model (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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SLC26A3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0008964

  • Alkalosis
  • Increased circulating renin concentration
  • Growth abnormality
  • Secretory diarrhea
  • Hypochloremia

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,945

1,945 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,945 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).

1,173 in the last 10 years · low confidence

Phrase hits: 506 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

1,058

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wedenoja S9 papers · 2025

    Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland. satu.wedenoja@helsinki.fi.

    Papers in Europe PMC
  2. 02
    Höglund P6 papers · 2017

    City of Kauniainen, Health Care Services, FI-02700, Kauniainen, Finland.

    Papers in Europe PMC
  3. 03
    Kere J6 papers · 2025

    Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, FI-00014, Helsinki, Finland.

    Papers in Europe PMC
  4. 04
    Castaldo G5 papers · 2021

    CEINGE-Biotecnologie Avanzate, 80145 Naples, Italy.

    Papers in Europe PMC
  5. 05
    Holmberg C5 papers · 2017

    Hospital for Children and Adolescents, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Kumar A5 papers · 2026

    Jesse Brown Veterans Affairs Medical Center, Chicago, Illinois; Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois.

    Papers in Europe PMC
  7. 07
    Liu X5 papers · 2025

    Department of Gastroenterology, Affiliated Hospital of Zunyi Medical University, Zunyi, 563003, Guizhou Province, China. onlyoneliuxuemei@163.com.

    Papers in Europe PMC
  8. 08
    Nozu K5 papers · 2025

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  9. 09
    Thiagarajah JR5 papers · 2024

    Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  10. 10
    Anbazhagan AN4 papers · 2025

    Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Congenital chloride diarrhea — 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.

("Congenital chloride diarrhea" OR "SLC26A3 secretory diarrhea" OR "SLC26A3 secretory diarrhoea" OR "congenital chloridorrhea" OR "congenital secretory chloride diarrhea type 1" OR "congenital secretory chloride diarrhoea type 1" OR "secretory diarrhea caused by mutation in SLC26A3" OR "secretory diarrhoea caused by mutation in SLC26A3") OR (MESH:"Congenital chloride diarrhea") OR ("SLC26A3" OR "SLC26A3 syndrome" OR "SLC26A3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital chloride diarrhea

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

"Congenital chloride diarrhea" OR "SLC26A3 secretory diarrhea" OR "SLC26A3 secretory diarrhoea" OR "congenital chloridorrhea" OR "congenital secretory chloride diarrhea type 1" OR "congenital secretory chloride diarrhoea type 1" OR "secretory diarrhea caused by mutation in SLC26A3" OR "secretory diarrhoea caused by mutation in SLC26A3"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1945) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T00:52:58.578Z