ORPHA:53689
Congenital chloride diarrhea
Publications
506
79.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,058
Distinct authors in sample
Gene link
SLC26A3
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008964
- MeSH:C536210
- OMIM:214700
- UMLS:C0267662
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC26A3
- LiteraturePresent
506 matched papers (214 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
506
506 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=5449) is 41.
506 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
214 in the last 10 years · high confidence · 79.7th percentile (publications denominator)
Phrase hits: 506 · MeSH hits: 5
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.
- 01Wedenoja 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 - 02Höglund P6 papers · 2017
City of Kauniainen, Health Care Services, FI-02700, Kauniainen, Finland.
Papers in Europe PMC - 03Kere J6 papers · 2025
Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, FI-00014, Helsinki, Finland.
Papers in Europe PMC - 04
- 05Holmberg C5 papers · 2017
Hospital for Children and Adolescents, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.
Papers in Europe PMC - 06Kumar 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 - 07Liu X5 papers · 2025
Department of Gastroenterology, Affiliated Hospital of Zunyi Medical University, Zunyi, 563003, Guizhou Province, China. onlyoneliuxuemei@163.com.
Papers in Europe PMC - 08Nozu K5 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 09Thiagarajah JR5 papers · 2024
Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 10Anbazhagan 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "SLC26A3"
Recall-expansion terms: 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, recall-expansion; 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
Ingested 2026-07-27T00:52:58.578Z