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ORPHA:84064

Trichohepatoenteric syndrome

low confidenceDisorder

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

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,261,545 matched papers (2,222,126 in last 10 years) Source

  3. Phenotype characterisedPresent

    134 HPO annotations (e.g. Woolly hair; Colitis; Uncombable hair) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

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

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

Phenotypes (Monarch / HPO)

134

Associated phenotypes · MONDO:0009105

  • Woolly hair
  • Colitis
  • Uncombable hair
  • Hepatomegaly
  • Cirrhosis

Showing 5 of 134 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

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=3967) is 59.

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 59 (publications denominator n=3967).

2,222,126 in the last 10 years · low confidence

Phrase hits: 3,261,545 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Fabre A15 papers · 2024

    Pediatric Gastroenterology, Hepatology and Nutrition Unit, Marseille University Hospital, 13288 Marseille, France.

    Papers in Europe PMC
  2. 02
    Badens 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
  3. 03
    Goulet 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
  4. 04
    Bourgeois 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
  5. 05
    Roquelaure B6 papers · 2022

    Pediatric Gastroenterology, Hepatology and Nutrition Unit, Marseille University Hospital, 13288 Marseille, France.

    Papers in Europe PMC
  6. 06
    Coste ME4 papers · 2021

    APHM, Hôpital de la Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France.

    Papers in Europe PMC
  7. 07
    Martinez-Vinson C4 papers · 2018

    APHP Robert Debré, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Paris, France.

    Papers in Europe PMC
  8. 08
    Zhang 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
  9. 09
    Chaix 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
  10. 10
    Dubern 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 11 September 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 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 Trichohepatoenteric syndrome — 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.

"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"

Run this search on Europe PMC

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