ORPHA:92050
Congenital tufting enteropathy
Also known as: IED · Intestinal epithelial dysplasia
Publications
518
86.5th percentile
Trials
15
Interventional, condition-specific
Researchers
1,129
Distinct authors in sample
Gene link
EPCAM
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013184
- MeSH:C567703
- OMIM:613217
- UMLS:C2750737
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — EPCAM
- LiteraturePresent
518 matched papers (345 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 trialPresent
15 matched on ClinicalTrials.gov (2 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 (EPCAM).
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?
518
518 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.
518 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).
345 in the last 10 years · medium confidence · 86.5th percentile (publications denominator)
Phrase hits: 518 · MeSH hits: 0
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.
- 01Sivagnanam 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 - 02Lei 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 - 03Yang Y8 papers · 2026
The First Affiliated Hospital (School of Clinical Medicine), Guangdong Pharmaceutical University, Guangzhou, Guangdong 510080, P.R. China.
Papers in Europe PMC - 04Wang 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 - 05Bugge 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 - 06Das B6 papers · 2021
Department of Pediatrics, University of California, San Diego, La Jolla, California.
Papers in Europe PMC - 07Goulet 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 - 08Li 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 - 09Szabo 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 - 10Barrett 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?
15
interventional trials for this specific condition
15 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
15 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.5th percentile).
medium confidence · 93.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
15 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05420064·RECRUITING·An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
Conditions: BRCA1 Mutation · POLD1 Gene Mutation · CDKN2A Mutation · BRCA2 Mutation·Matched via recall expansion
- NCT07400263·RECRUITING·Evaluation of an EpCAM-Targeted Radiotracer in Epithelial Tumors
Conditions: Epithelial Tumors, Malignant·Matched via recall expansion
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07018505·NOT YET RECRUITING·EpCAM-Targeted Surface-Enhanced Raman Spectroscopy Nanotags for Rapid Evaluation of Surgical Margins and Sentinel Lymph Node Metastasis Status in Breast Cancers
Conditions: Sentinel Lymph Node · Breast Cancers · Metastases · Margin Assessment·Matched via recall expansion
- NCT07450612·RECRUITING·Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
Conditions: Colorectal Cancer · Adenoma Colon · Adenoma Colon Polyp · Colon Adenoma·Matched via recall expansion
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 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"
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" OR "EPCAM"
Recall-expansion terms: EPCAM
Interventional trials matched via: phrase, 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: 15 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T04:05:39.444Z