RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:314373

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

high confidenceDisorder

Publications

14

30.9th percentile

Trials

5

Interventional, condition-specific

Researchers

108

Distinct authors in sample

Gene link

GUCY2C

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.

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 (8)

GUCY2C congenital diarrhea · GUCY2C congenital diarrhoea · congenital diarrhea caused by mutation in GUCY2C · congenital diarrhea type 6 · congenital diarrhoea caused by mutation in GUCY2C · congenital diarrhoea type 6 · diarrhea type 6 · diarrhoea type 6

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

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

  1. Gene identifiedPresent

    Definitive — GUCY2C

  2. LiteraturePresent

    14 matched papers (13 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (GUCY2C).

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?

14

14 papers have ever been indexed 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=5449) is 41.

14 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).

13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)

Phrase hits: 14 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

108

Distinct author names in 14 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
    Johnson SA2 papers · 2025

    Functional Foods & Human Health Laboratory, Department of Food Science and Human Nutrition, Colorado State University, Fort Collins, CO 80523, USA.

    Papers in Europe PMC
  2. 02
    Vazquez AR2 papers · 2025

    Intestinal Health Laboratory, Department of Food Science and Human Nutrition, Colorado State University, Fort Collins, CO 80523, USA.

    Papers in Europe PMC
  3. 03
    Weir TL2 papers · 2025

    Intestinal Health Laboratory, Department of Food Science and Human Nutrition, Colorado State University, Fort Collins, CO 80523, USA.

    Papers in Europe PMC
  4. 04
    Aamodt G1 paper · 2021

    Department of Public Health, Faculty of Landscape and Society, Norwegian University of Life Sciences, Ås, Norway.

    Papers in Europe PMC
  5. 05
    Altomare A1 paper · 2023

    Research Unit of Gastroenterology, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21-00128 Roma, Italy.

    Papers in Europe PMC
  6. 06
    Anderson K1 paper · 2026

    International Collaboration On Repair Discoveries (ICORD), Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.

    Papers in Europe PMC
  7. 07
    Andreyev HJ1 paper · 2020

    The Department of Gastroenterology, Lincoln County Hospital, Lincoln and The School of Medicine, University of Nottingham, Nottingham, UK.

    Papers in Europe PMC
  8. 08
    Balthazaar SJT1 paper · 2026

    International Collaboration On Repair Discoveries (ICORD), Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.

    Papers in Europe PMC
  9. 09
    Bastien S1 paper · 2021

    Department of Public Health, Faculty of Landscape and Society, Norwegian University of Life Sciences, Ås, Norway.

    Papers in Europe PMC
  10. 10
    Berger MJ1 paper · 2026

    International Collaboration On Repair Discoveries (ICORD), Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.

    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; 3 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th 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.

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 2026-07-26

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.

"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity" OR "GUCY2C congenital diarrhea" OR "GUCY2C congenital diarrhoea" OR "congenital diarrhea caused by mutation in GUCY2C" OR "congenital diarrhea type 6" OR "congenital diarrhoea caused by mutation in GUCY2C" OR "congenital diarrhoea type 6" OR "diarrhea type 6" OR "diarrhoea type 6"

Run this search on Europe PMC

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

"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity" OR "GUCY2C congenital diarrhea" OR "GUCY2C congenital diarrhoea" OR "congenital diarrhea caused by mutation in GUCY2C" OR "congenital diarrhea type 6" OR "congenital diarrhoea caused by mutation in GUCY2C" OR "congenital diarrhoea type 6" OR "diarrhea type 6" OR "diarrhoea type 6" OR "GUCY2C"

Recall-expansion terms: GUCY2C

Interventional trials matched via: recall-expansion (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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T13:03:40.729Z