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ORPHA:103908

Congenital sodium diarrhea

medium confidenceDisorder

Also known as: CSD · NHE3 deficiency · Na-H exchanger 3 deficiency · Non-syndromic congenital sodium diarrhea · Sodium/proton exchanger-3 deficiency

Publications

182

59.9th percentile

Trials

0

Interventional, condition-specific

Researchers

953

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, non-syndromic intestinal transport defect characterized by onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Na-H exchange deficiency

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    182 matched papers (122 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Inflammation of the large intestine; Polyhydramnios; Dependency on parenteral nutrition) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0015170

  • Inflammation of the large intestine
  • Polyhydramnios
  • Dependency on parenteral nutrition
  • Abnormal circulating sodium concentration
  • Elevated fecal pH

Showing 5 of 29 — 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?

182

182 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

182 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).

122 in the last 10 years · medium confidence · 59.9th percentile (publications denominator)

Phrase hits: 182 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

953

Distinct author names in 182 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
    Ghishan FK13 papers · 2025

    Department of Pediatrics, Steele Children's Research Center, University of Arizona, Tucson, Arizona, USA.

    Papers in Europe PMC
  2. 02
    Müller T13 papers · 2025

    Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  3. 03
    Janecke AR12 papers · 2025

    Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

    Papers in Europe PMC
  4. 04
    Kiela PR12 papers · 2025

    Department of Pediatrics, Steele Children's Research Center, University of Arizona, Tucson, Arizona, USA.

    Papers in Europe PMC
  5. 05
    Heinz-Erian P10 papers · 2022

    Anichstr. 35, 6020 Innsbruck, Austria

    Papers in Europe PMC
  6. 06
    Laubitz D9 papers · 2025

    Department of Pediatrics, Steele Children's Research Center, University of Arizona Health Sciences Center, Tucson, AZ 85724, USA.

    Papers in Europe PMC
  7. 07
    Lin CY9 papers · 2024

    Department of Oncology, Lombardi Cancer Center, Georgetown University Medical Center, Washington, DC, USA.

    Papers in Europe PMC
  8. 08
    Johnson MD8 papers · 2024

    Department of Oncology, Lombardi Cancer Center, Georgetown University Medical Center, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Midura-Kiela MT6 papers · 2025

    Department of Pediatrics-Steele Children's Research Center, University of Arizona, Tucson, Arizona, United States of America.

    Papers in Europe PMC
  10. 10
    Wang JK6 papers · 2024

    Department of Biochemistry, National Defense Medical Center, Taipei City, Taiwan.

    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.

medium 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30

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 (3)

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 sodium 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 sodium diarrhea" OR "NHE3 deficiency" OR "Na-H exchanger 3 deficiency" OR "Non-syndromic congenital sodium diarrhea" OR "Sodium/proton exchanger-3 deficiency" OR "Na-H exchange deficiency"

Run this search on Europe PMC

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

"Congenital sodium diarrhea" OR "NHE3 deficiency" OR "Na-H exchanger 3 deficiency" OR "Non-syndromic congenital sodium diarrhea" OR "Sodium/proton exchanger-3 deficiency" OR "Na-H exchange deficiency"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: CSD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:23:02.696Z