FAIRsharing is now available for record creation, update, and search at https://beta.fairsharing.org, please visit us there! Replacement of this read-only version of the legacy site with the new version of FAIRsharing is planned for the week commencing 31 January 2022.

ready International Microvillus Inclusion Disease Patient Registry


General Information
The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotypes.

Awaiting DOI assignment.

Record added: Nov. 1, 2018, 9:34 p.m.
Record updated: March 11, 2021, 11:40 a.m. by The FAIRsharing Team.

Show edit history

In Collections



Additional Information


    No tools defined


An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

van der Velde KJ,Dhekne HS,Swertz MA,Sirigu S,Ropars V,Vinke PC,Rengaw T,van den Akker PC,Rings EH,Houdusse A,van Ijzendoorn SC
Hum Mutat 2013

View Paper (PubMed) View Publication

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

No semantic standards defined

Models and Formats

Identifier Schemas

No identifier schema standards defined


No metrics standards defined

Related Databases

Implementing Policies

This record is not implemented by any policy.


Record Maintainer

  • This record is in need of a maintainer. If you login, you'll be able to claim this record.



Grant Number(s)

  • 184.021.007 (Dutch government)

  • 2010 1504 01 (Agence Nationale de la Recherche (ANR), France)

  • FP7‐HEALTH 200754 (GEN2PHEN)


  • SFI20121205398 (Fondation pour la Recherche contre le Cancer (ARC), Villejuif, France)