FXIII Deficiency

Resources

Sites for more information on F13 gene variants:

Gene Cards: Human Gene Data base from the Weizmann Institute of Science.

www.genecards.org/cgi-bin/carddisp.pl?gene=F13A1

NIH /NCBI Resources on Clinical Variants and Phenotypes associated with F13 genes

www.ncbi.nlm.nih.gov/clinvar

Sites for more information on FXIII registries and Clinical Resources for patients and Providers:

The PRO-RBDD Project  is an international collaborating network that has developed a web database designed to prospectively collect clinical and laboratory data of patients with the most severe types of RBDs, fibrinogen deficiency and FXIII deficiency. The goal is to evaluate prevalence, bleeding frequency and management, as well as consumption of treatment products and related complications. Current studies are analyzing fibrinogen and factor XIII deficiencies.

For additional information, please contact info@rbdd.eu or read the PRO-RBDD flyer.

Additional resources are available on  orphanet.orgKorean Mutation Database for Rare DiseasesMoroccan National Genetic Database; among others.