ORPHA:2290
Microvillus inclusion disease
Also known as: Congenital microvillous atrophy · Congenital microvillus atrophy · MVID · Microvillous inclusion disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
772
Trials
1
Interventional, condition-specific
Researchers
1,185
Distinct authors in sample
Gene link
MYO5B, STX3, STXBP2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.
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:0009635
- OMIM:251850
- UMLS:C0341306
Additional Mondo synonyms (12)
Davidson disease · MYO5B secretory diarrhea · MYO5B secretory diarrhoea · congenital familial protracted diarrhea with enterocyte brush-border abnormalities · congenital familial protracted diarrhoea with enterocyte brush-border abnormalities · congenital microvillous atrophy · congenital microvillus atrophy · diarrhoea 2 with microvillus atrophy · microvillous inclusion disease · microvillus inclusion disease · secretory diarrhea caused by mutation in MYO5B · secretory diarrhoea caused by mutation in MYO5B
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 — MYO5B, STX3, STXBP2
- LiteraturePresent
772 matched papers (414 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?
Yes — we know a specific gene responsible (MYO5B, STX3, STXBP2).
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?
772
772 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.
772 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).
414 in the last 10 years · low confidence
Phrase hits: 772 · MeSH hits: 0
Who's working on it?
1,185
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.
- 01Goldenring JR14 papers · 2025
Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, Tennessee; Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, Tennessee; Nashville VA Medical Center, Nashville, Tennessee. Electronic address: jim.goldenring@vumc.org.
Papers in Europe PMC - 02Kaji I13 papers · 2026
Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, Tennessee; Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Papers in Europe PMC - 03van IJzendoorn SCD11 papers · 2026
Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Papers in Europe PMC - 04Janecke AR8 papers · 2025
Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
Papers in Europe PMC - 05Müller T8 papers · 2025
Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
Papers in Europe PMC - 06Huber LA7 papers · 2025
Division of Cell Biology, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
Papers in Europe PMC - 07Roland JT7 papers · 2026
Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, Tennessee; Epithelial Biology Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Papers in Europe PMC - 08Thiagarajah JR7 papers · 2025
Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Enders Rm 605, 300 Longwood Ave, Boston, MA, 02115, USA. jay.thiagarajah@childrens.harvard.edu.
Papers in Europe PMC - 09Burman A6 papers · 2026
Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, Tennessee; Epithelial Biology Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Papers in Europe PMC - 10Vogel GF6 papers · 2025
Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
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.
"Microvillus inclusion disease" OR "Congenital microvillous atrophy" OR "Congenital microvillus atrophy" OR "Microvillous inclusion disease" OR "Davidson disease" OR "MYO5B secretory diarrhea" OR "MYO5B secretory diarrhoea" OR "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" OR "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" OR "diarrhoea 2 with microvillus atrophy" OR "secretory diarrhea caused by mutation in MYO5B" OR "secretory diarrhoea caused by mutation in MYO5B"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microvillus inclusion disease" OR "Congenital microvillous atrophy" OR "Congenital microvillus atrophy" OR "Microvillous inclusion disease" OR "Davidson disease" OR "MYO5B secretory diarrhea" OR "MYO5B secretory diarrhoea" OR "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" OR "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" OR "diarrhoea 2 with microvillus atrophy" OR "secretory diarrhea caused by mutation in MYO5B" OR "secretory diarrhoea caused by mutation in MYO5B" OR "MYO5B" OR "STX3" OR "STXBP2"
Recall-expansion terms: MYO5B, STX3, STXBP2
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: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MVID
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
- Publication count (772) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T19:41:15.673Z