1. DDIEM: Drug Database for Inborn Errors of Metabolism
- Author
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Senay Kafkas, Eunice McMurray, Ali Raza Syed, Allan Anthony Kamau, Marwa Abdelhakim, Robert Hoehndorf, Paul N Schofield, Hoehndorf, Robert [0000-0001-8149-5890], and Apollo - University of Cambridge Repository
- Subjects
0301 basic medicine ,Drug ,Databases, Pharmaceutical ,Computer science ,media_common.quotation_subject ,lcsh:Medicine ,Therapeutic Procedure ,Inborn errors of metabolism ,Therapeutic procedure ,computer.software_genre ,Inherited metabolic diseases ,03 medical and health sciences ,0302 clinical medicine ,Molecular level ,Rare Diseases ,Humans ,Pharmacology (medical) ,Genetics (clinical) ,media_common ,Database ,Ontology ,Research ,lcsh:R ,Drug repositioning ,General Medicine ,Metabolism ,Human genetics ,Data resources ,Drug effect ,030104 developmental biology ,Phenotype ,Orphan disease ,Metabolic enzymes ,computer ,030217 neurology & neurosurgery ,Metabolism, Inborn Errors - Abstract
Background Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources. Results We gathered data on therapeutic strategies for 300 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology. Conclusions We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.
- Published
- 2020