ORPHA:83620
Enteric anendocrinosis
Also known as: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Query health: suspect — Only one of 3 strategies returned hits (phrase).
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.
Is anyone studying this?
100
100 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
100 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
54 in the last 10 years · high confidence · 56th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NEUROG3).
GenCC classification: Strong.
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.
- 01Martín 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 - 02Wang 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 - 03Avitzur Y4 papers · 2025
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 04Thiagarajah JR4 papers · 2025
Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 05Wells 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 - 06Acra S3 papers · 2025
Departments of Surgery and Pediatrics and the Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Papers in Europe PMC - 07Codner E3 papers · 2022
Institute of Maternal and Child Research, School of Medicine, University of Chile, Santiago, Chile.
Papers in Europe PMC - 08Cortina 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 - 09Ellard S3 papers · 2014Papers in Europe PMC
- 10Flanagan SE3 papers · 2014Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"Enteric anendocrinosis" OR "Congenital malabsorptive diarrhea due to paucity of 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 type 4"
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" OR "NEUROG3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C563673 OMIM:610370 UMLS:C1835888
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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