Welcome to the international registry of dystrophic epidermolysis bullosa (DEB) patients and associated COL7A1 mutations.

The DEB Register is a joint initiative of the International Dystrophic Epidermolysis Bullosa Patient Registry (www.deb-central.org) and the COL7A1 gene Variant Database (www.col7.info) aimed at creating one strong international register for all DEB patients and their COL7A1 mutations. This is a work in progress and new updates and functionalities will be implemented on a regular basis. Currently, the register contains data on 1039 DEB patients and 659 COL7A1 sequence variants.

As long as this new register is not published, please cite on use:

1. Van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, Van Essen AJ, Hofstra RM, Swertz MA. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat. 2011 Oct;32(10):1100-7. Pubmed ID: 21681854

2. Wertheim-Tysarowska K, Sobczynska-Tomaszewska A, Kowalewski C, Skronski M, Swieckowski G, Kutkowska-Kazmierczak A, Wozniak K, Bal J. The COL7A1 mutation database. Hum Mutat. 2012 Feb;33(2):327-31. PubMed ID: 22058051

Available datasets: