MYO5B encodes myosin VB (1,848 aa). May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Highest expression in Esophagus Mucosa (20.9 TPM) and Thyroid (20.5 TPM).

Microvillus inclusion disease is associated with mutations in the MYO5B gene on chromosome 18.

MYO5B is classified as a druggable target with score 0.0.

Genetic testing for MYO5B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microvillus inclusion disease has been reported in the published literature.

No approved treatments are currently available for microvillus inclusion disease. An additional 3 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for microvillus inclusion disease, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for microvillus inclusion disease. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

crofelemer is referenced in active clinical trials for microvillus inclusion disease (designated 2023).

Gene therapy approaches for microvillus inclusion disease have been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.

21 publications have been identified in PubMed for microvillus inclusion disease. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (24%), and Review / Meta-Analysis (14%).

Recent Publications

• McKee PR (2026). [PMID: 41678294](https://pubmed.ncbi.nlm.nih.gov/41678294/). *Hepatology communications*. [Case Report / Case Series]

• Sun C (2026). [PMID: 41908891](https://pubmed.ncbi.nlm.nih.gov/41908891/). *Gastroenterol Rep (Oxf)*. [Basic Science / Preclinical]

• Burman A (2026). [PMID: 41720082](https://pubmed.ncbi.nlm.nih.gov/41720082/). *Stem cell reports*. [Basic Science / Preclinical]

• Waich S (2025). [PMID: 40125554](https://pubmed.ncbi.nlm.nih.gov/40125554/). *JCI insight*. [Basic Science / Preclinical]

• Okushima H (2025). [PMID: 41033460](https://pubmed.ncbi.nlm.nih.gov/41033460/). *Kidney international*. [Case Report / Case Series]

• She HY (2025). [PMID: 40127562](https://pubmed.ncbi.nlm.nih.gov/40127562/). *Biochemical and biophysical research communications*. [Basic Science / Preclinical]

• Burman A (2025). [PMID: 40304314](https://pubmed.ncbi.nlm.nih.gov/40304314/). *Expert opinion on therapeutic targets*. [Gene Therapy / Novel Therapeutics]

• Roquelaure B (2025). [PMID: 40355967](https://pubmed.ncbi.nlm.nih.gov/40355967/). *Orphanet journal of rare diseases*. [Case Report / Case Series]

• Kovilveettil AN (2025). [PMID: 40734809](https://pubmed.ncbi.nlm.nih.gov/40734809/). *Gastroenterology and hepatology from bed to bench*. [Review / Meta-Analysis]

• Bowman DM (2025). [PMID: 39978676](https://pubmed.ncbi.nlm.nih.gov/39978676/). *The Journal of biological chemistry*. [Basic Science / Preclinical]