Details of Disease | DrugMAP

General Information of Disease (ID: DISRUR5T)

Disease Name	Combined oxidative phosphorylation deficiency 28
Synonyms	COXPD28; combined oxidative phosphorylation deficiency type 28; combined oxidative phosphorylation defect type 28; combined oxidative phosphorylation deficiency caused by mutation in SLC25A26; combined oxidative phosphorylation deficiency 28; SLC25A26 combined oxidative phosphorylation deficiency; neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.
Disease Hierarchy	DISHNY7Q: Mitochondrial substrate carrier disorder DISG5MW9: Combined oxidative phosphorylation deficiency DISRUR5T: Combined oxidative phosphorylation deficiency 28
Disease Identifiers	MONDO ID MONDO_0014775 UMLS CUI C5569081 OMIM ID 616794 MedGen ID 1800504 Orphanet ID 466784 SNOMED CT ID 1187640000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A26	DT8HR5O	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A26	OTSF2NXD	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.