RSDB: A rare skin disease database to link drugs with potential drug targets for rare skin diseases

Abstract

Rare skin diseases include more than 800 diseases affecting more than 6.8 million patients worldwide. However, only 100 drugs have been developed for treating rare skin diseases in the past 38 years. To investigate potential treatments through drug repurposing for rare skin diseases, it is necessary to have a well-organized database to link all known disease causes, mechanisms, and related information to accelerate the process. Drug repurposing provides less expensive and faster potential options to develop treatments for known diseases. In this work, we designed and constructed a rare skin disease database (RSDB) as a disease-centered information depository to facilitate repurposing drug candidates for rare skin diseases. We collected and integrated associated genes, chemicals, and phenotypes into a network connected by pairwise relationships between different components for rare skin diseases. The RSDB covers 891 rare skin diseases defined by the Orphanet and GARD databases. The organized network for each rare skin disease comprises associated genes, phenotypes, and chemicals with the corresponding connections. The RSDB is available at https://rsdb.cmdm.tw .

Fig. 1

Search engine and homepage of the RSDB.

Fig. 2

Screenshot of the network for cutis marmorata telangiectatica congenita (ORPHA: 1556). Nine phenotypes, two genes, and one chemical are directly connected to the disease, and eight genes are indirectly linked to the disease through phenotypes. The NOTCH1 gene is related to the disease both directly and indirectly. Red edge stands for the curated disease-gene information.

Fig. 3

Entity-relationship diagram of the RSDB.