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ORPHA:2290

Microvillus inclusion disease

low confidenceDisorder

Also known as: Congenital microvillous atrophy · Congenital microvillus atrophy · MVID · Microvillous inclusion disease

Publications

3,842

Trials

1

Interventional, condition-specific

Researchers

1,185

Distinct authors in sample

Gene link

MYO5B, STX3, STXBP2

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

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

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MYO5B, STX3, STXBP2

  2. LiteraturePresent

    3,842 matched papers (2,706 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Villous atrophy; Malnutrition; Dehydration) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. racecadotril 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?

Yes — we know a specific gene responsible (MYO5B, STX3, STXBP2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0009635

  • Villous atrophy
  • Malnutrition
  • Dehydration
  • Growth delay
  • Abnormal intestine morphology

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA racecadotrilMicrovillus inclusion disease · 2020-04-13 · Not FDA Approved for Orphan Indication
  • EMA alisitol;retinol palmitate;zinc gluconateTreatment of microvillus inclusion disease · 13/11/2020 · PositiveEMA designation
  • EMA crofelemerTreatment of microvillus inclusion disease · 11/10/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009635

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,842

3,842 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.

3,842 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).

2,706 in the last 10 years · low confidence

Phrase hits: 772 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Goldenring 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
  2. 02
    Kaji 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
  3. 03
    van 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
  4. 04
    Janecke AR8 papers · 2025

    Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.

    Papers in Europe PMC
  5. 05
    Müller T8 papers · 2025

    Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.

    Papers in Europe PMC
  6. 06
    Huber LA7 papers · 2025

    Division of Cell Biology, Medical University of Innsbruck, A-6020 Innsbruck, Austria.

    Papers in Europe PMC
  7. 07
    Roland 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
  8. 08
    Thiagarajah 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
  9. 09
    Burman 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
  10. 10
    Vogel 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 11 September 2026 · last trial check 28 July 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Microvillus inclusion disease — 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.

("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 "MYO5B syndrome" OR "MYO5B-related" OR "STX3" OR "STX3 syndrome" OR "STX3-related" OR "STXBP2" OR "STXBP2 syndrome" OR "STXBP2-related")

Run this search on Europe PMC

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"

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

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 (3842) 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