ORPHA:84064
Trichohepatoenteric syndrome
Also known as: Phenotypic diarrhea · SD/THE · Syndromic diarrhea · Syndromic diarrhea/Tricho-hepato-enteric syndrome · Tricho-hepato-enteric syndrome
Publications
3,261,545
Trials
1
Interventional, condition-specific
Researchers
1,311
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009105
- UMLS:C1857276
Additional Mondo synonyms (6)
Trichohepatoenteric syndrome type 1 · phenotypic diarrhea · phenotypic diarrhoea · syndromic diarrhea · syndromic diarrhea/Tricho-hepato-enteric syndrome · syndromic diarrhoea
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,261,545 matched papers (2,222,126 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
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
3,261,545
3,261,545 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=5449) is 41.
3,261,545 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).
2,222,126 in the last 10 years · low confidence
Phrase hits: 3,261,545 · MeSH hits: 0
Who's working on it?
1,311
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.
- 01Fabre A15 papers · 2024
Pediatric Gastroenterology, Hepatology and Nutrition Unit, Marseille University Hospital, 13288 Marseille, France.
Papers in Europe PMC - 02Badens C13 papers · 2021
Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, APHM, Marseille, France; Faculté de Médecine, Inserm UMRS 910, Aix-Marseille Université, Marseille, France.
Papers in Europe PMC - 03Goulet O9 papers · 2024
Division of Pediatric Gastroenterology, Hepatology and Nutrition, University Paris Descartes Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.
Papers in Europe PMC - 04Bourgeois P7 papers · 2021
Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
Papers in Europe PMC - 05Roquelaure B6 papers · 2022
Pediatric Gastroenterology, Hepatology and Nutrition Unit, Marseille University Hospital, 13288 Marseille, France.
Papers in Europe PMC - 06Coste ME4 papers · 2021
APHM, Hôpital de la Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France.
Papers in Europe PMC - 07Martinez-Vinson C4 papers · 2018
APHP Robert Debré, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Paris, France.
Papers in Europe PMC - 08Zhang Y4 papers · 2026
State Key Laboratory of Southwestern Chinese Medicine Resources, School of Ethnic Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, 611137, China. Electronic address: zhangyi@cdutcm.edu.cn.
Papers in Europe PMC - 09Chaix C3 papers · 2018
Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
Papers in Europe PMC - 10Dubern B3 papers · 2018
Nutrition et Gastroentérologie Pédiatriques, Hôpital Armand-Trousseau, UMR-S U1166 Nutriomics, UPMC, Sorbonne University, Paris, France.
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th 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.
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.
"Trichohepatoenteric syndrome" OR "Phenotypic diarrhea" OR "SD/THE" OR "Syndromic diarrhea" OR "Syndromic diarrhea/Tricho-hepato-enteric syndrome" OR "Tricho-hepato-enteric syndrome" OR "Trichohepatoenteric syndrome type 1" OR "phenotypic diarrhoea" OR "syndromic diarrhoea"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trichohepatoenteric syndrome" OR "Phenotypic diarrhea" OR "SD/THE" OR "Syndromic diarrhea" OR "Syndromic diarrhea/Tricho-hepato-enteric syndrome" OR "Tricho-hepato-enteric syndrome" OR "Trichohepatoenteric syndrome type 1" OR "phenotypic diarrhoea" OR "syndromic diarrhoea"
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: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (3261545) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:42:16.123Z