Database Commons

a catalog of biological databases

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Database Profile

General information

Full name: Drug Database for inborn errors of metabolism
Description: DDIEM is a database of therapeutic approaches to treating IEMs which have been manually extracted from the scientific literature. DDIEM currently covers 300 rare diseases along with the association of 305 genes and 584 drugs that were used to treat these diseases; these treatment attempts have been linked to 1,482 distinct disease-associated phenotypes that were influenced by these treatments. The main entity in DDIEM is the therapeutic procedure which is used to treat a metabolic disorder; these procedures are classified based on their underlying mechanism or modality.
Year founded: 2020
Last update: 2020-06-11
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Country/Region: Saudi Arabia
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Contact information

University/Institution: King Abdullah University of Science and Technology
Address: Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955 Kingdom of Saudi Arabia
City: Thuwal
Country/Region: Saudi Arabia
Contact name (PI/Team): Marwa Abdelhakim
Contact email (PI/Helpdesk):


DDIEM: drug database for inborn errors of metabolism. [PMID: 32527280]
Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf

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

Orphanet J Rare Dis. 2020:15(1) | 1 Citations (from Europe PMC, 2021-06-19)


All databases:
3813/5061 (24.679%)
Health and medicine:
805/1067 (24.649%)
289/384 (25%)
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Created on: 2020-11-11
Curated by:
lin liu [2021-02-19]
Zhao Li [2020-11-23]
Ming Chen [2020-11-11]