Details of Disease | DrugMAP

General Information of Disease (ID: DISKE17B)

Disease Name	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Synonyms	mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency; MTDPS3; mitochondrial DNA depletion syndrome 3 (hepatocerebral type); mitochondrial DNA depletion syndrome 3; mitochondrial DNA depletion syndrome type 3; mitochondrial DNA depletion syndrome caused by mutation in DGUOK; DGUOK mitochondrial DNA depletion syndrome
Definition	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DISIGZSM: Mitochondrial DNA depletion syndrome DISXOJLH: Mitochondrial DNA depletion syndrome, hepatocerebral form DISKE17B: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Disease Identifiers	MONDO ID MONDO_0009636 UMLS CUI C5191055 OMIM ID 251880 MedGen ID 1682503 Orphanet ID 279934 SNOMED CT ID 783734000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DGUOK	OT78HUZB	Definitive	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.