microvillus inclusion disease
Findings
No curated finding names microvillus inclusion disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.
Definition from the Mondo Disease Ontology (MONDO:0009635), read 2026-09-29. CC BY 4.0.
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Protracted diarrheaHPOHP:0004385
- 11 of 11 reported patients
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abnormal renal physiologyHPOHP:0012211
- Frequent (30% to 79% of cases)
- Abnormal small intestinal villus morphologyHPOHP:0011472
- Frequent (30% to 79% of cases)
- DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Global developmental delay
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYO5BHGNC:7603
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- STX3HGNC:11438
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- STXBP2HGNC:11445
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
12 names
Resolves to: microvillus inclusion disease
- Also called
- congenital familial protracted diarrhea with enterocyte brush-border abnormalitiescongenital familial protracted diarrhoea with enterocyte brush-border abnormalitiescongenital microvillous atrophycongenital microvillus atrophyDavidson diseasediarrhoea 2 with microvillus atrophymicrovillous inclusion diseaseMVIDMYO5B secretory diarrheaMYO5B secretory diarrhoeasecretory diarrhea caused by mutation in MYO5Bsecretory diarrhoea caused by mutation in MYO5B