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ORPHA:92050

Congenital tufting enteropathy

low confidenceDisorder

Also known as: IED · Intestinal epithelial dysplasia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

37,745

Trials

1

Interventional, condition-specific

Researchers

1,129

Distinct authors in sample

Gene link

EPCAM

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Tufting Enteropathy is a rare enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

DIAR5 · EPCAM secretory diarrhea · EPCAM secretory diarrhoea · congenital diarrhea 5 with tufting enteropathy · congenital tufting enteropathy · intestinal epithelial dysplasia · secretory diarrhea caused by mutation in EPCAM · secretory diarrhoea caused by mutation in EPCAM · tufting enteropathy

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 — EPCAM

  2. LiteraturePresent

    37,745 matched papers (30,239 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Steatorrhea; Cataract; Photophobia) 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 trialPresent

    1 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 (EPCAM).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0013184

  • Steatorrhea
  • Cataract
  • Photophobia
  • Failure to thrive
  • Chronic diarrhea

Showing 5 of 32 — 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?

37,745

37,745 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.

37,745 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).

30,239 in the last 10 years · low confidence

Phrase hits: 518 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,129

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
    Sivagnanam M10 papers · 2021

    Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, Rady Children's Hospital, San Diego, CA 92123, USA.

    Papers in Europe PMC
  2. 02
    Lei Z9 papers · 2026

    Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine and Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China and Institute of Chinese Medicine, Guangdong Pharmaceutical University and Guangdong TCM Key Laboratory for Metabolic Diseases, Guangzhou, Guangdong 510006, P.R. China.

    Papers in Europe PMC
  3. 03
    Yang Y8 papers · 2026

    The First Affiliated Hospital (School of Clinical Medicine), Guangdong Pharmaceutical University, Guangzhou, Guangdong 510080, P.R. China.

    Papers in Europe PMC
  4. 04
    Wang Y7 papers · 2026

    Department of Pathology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, Jiangsu, China.

    Papers in Europe PMC
  5. 05
    Bugge TH6 papers · 2023

    Proteases and Tissue Remodeling Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  6. 06
    Das B6 papers · 2021

    Department of Pediatrics, University of California, San Diego, La Jolla, California.

    Papers in Europe PMC
  7. 07
    Goulet O6 papers · 2022

    Department of Pediatric Gastroenterology-Hepatology and Nutrition and Reference Center for Rare Digestive Disease, Hopital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  8. 08
    Li X6 papers · 2026

    Department of Surgical Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, Jiangsu, China.

    Papers in Europe PMC
  9. 09
    Szabo R6 papers · 2023

    Proteases and Tissue Remodeling Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  10. 10
    Barrett KE5 papers · 2021

    Department of Medicine, University of California, San Diego, La Jolla, California.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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 2026-07-30

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).

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 tufting enteropathy — 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 tufting enteropathy" OR "Intestinal epithelial dysplasia" OR "DIAR5" OR "EPCAM secretory diarrhea" OR "EPCAM secretory diarrhoea" OR "congenital diarrhea 5 with tufting enteropathy" OR "secretory diarrhea caused by mutation in EPCAM" OR "secretory diarrhoea caused by mutation in EPCAM" OR "tufting enteropathy") OR (MESH:"Diarrhea 5, With Tufting Enteropathy, Congenital") OR ("EPCAM" OR "EPCAM syndrome" OR "EPCAM-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Diarrhea 5, With Tufting Enteropathy, Congenital

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

"Congenital tufting enteropathy" OR "Intestinal epithelial dysplasia" OR "DIAR5" OR "EPCAM secretory diarrhea" OR "EPCAM secretory diarrhoea" OR "congenital diarrhea 5 with tufting enteropathy" OR "secretory diarrhea caused by mutation in EPCAM" OR "secretory diarrhoea caused by mutation in EPCAM" OR "tufting enteropathy" OR "Diarrhea 5, With Tufting Enteropathy, Congenital"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IED

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
  • Publication count (37745) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:05:39.444Z