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ORPHA:83620

Enteric anendocrinosis

low confidenceDisorder

Also known as: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

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

Publications

2,248

Trials

0

Interventional, condition-specific

Researchers

648

Distinct authors in sample

Gene link

NEUROG3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

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 (9)

NEUROG3 congenital diarrhea · NEUROG3 congenital diarrhoea · congenital diarrhea caused by mutation in NEUROG3 · congenital diarrhoea caused by mutation in NEUROG3 · congenital malabsorptive diarrhea due to paucity of enteroendocrine cells · congenital malabsorptive diarrhea type 4 · congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells · congenital malabsorptive diarrhoea type 4 · enteric anendocrinosis

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — NEUROG3

  2. LiteraturePresent

    2,248 matched papers (1,394 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Diarrhea; Dehydration; Vomiting) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (NEUROG3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0012479

  • Diarrhea
  • Dehydration
  • Vomiting
  • Hyperchloremic metabolic acidosis
  • Portal hypertension

Showing 5 of 39 — 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 2026-07-27

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?

2,248

2,248 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=3967) is 59.

2,248 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).

1,394 in the last 10 years · low confidence

Phrase hits: 100 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

648

Distinct author names in 100 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Martín MG9 papers · 2025

    Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California. Electronic address: mmartin@mednet.ucla.edu.

    Papers in Europe PMC
  2. 02
    Wang J5 papers · 2026

    Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  3. 03
    Avitzur Y4 papers · 2025

    Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  4. 04
    Thiagarajah JR4 papers · 2025

    Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  5. 05
    Wells JM4 papers · 2015

    Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA james.wells@cchmc.org.

    Papers in Europe PMC
  6. 06
    Acra S3 papers · 2025

    Departments of Surgery and Pediatrics and the Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

    Papers in Europe PMC
  7. 07
    Codner E3 papers · 2022

    Institute of Maternal and Child Research, School of Medicine, University of Chile, Santiago, Chile.

    Papers in Europe PMC
  8. 08
    Cortina G3 papers · 2013

    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  9. 09
    Ellard S3 papers · 2014
    Papers in Europe PMC
  10. 10
    Flanagan SE3 papers · 2014
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-27

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 Enteric anendocrinosis — 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.

("Enteric anendocrinosis" OR "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" OR "Congenital malabsorptive diarrhea due to paucity of the enteroendocrine cells" OR "NEUROG3 congenital diarrhea" OR "NEUROG3 congenital diarrhoea" OR "congenital diarrhea caused by mutation in NEUROG3" OR "congenital diarrhoea caused by mutation in NEUROG3" OR "congenital malabsorptive diarrhea type 4" OR "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" OR "congenital malabsorptive diarrhoea due to paucity of the enteroendocrine cells" OR "congenital malabsorptive diarrhoea type 4") OR (MESH:"Diarrhea 4, Malabsorptive, Congenital") OR ("NEUROG3" OR "NEUROG3 syndrome" OR "NEUROG3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Diarrhea 4, Malabsorptive, Congenital

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

"Enteric anendocrinosis" OR "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" OR "Congenital malabsorptive diarrhea due to paucity of the enteroendocrine cells" OR "NEUROG3 congenital diarrhea" OR "NEUROG3 congenital diarrhoea" OR "congenital diarrhea caused by mutation in NEUROG3" OR "congenital diarrhoea caused by mutation in NEUROG3" OR "congenital malabsorptive diarrhea type 4" OR "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" OR "congenital malabsorptive diarrhoea due to paucity of the enteroendocrine cells" OR "congenital malabsorptive diarrhoea type 4" OR "Diarrhea 4, Malabsorptive, Congenital"

Study-type breakdown: 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2248) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:00:55.919Z