Details of Disease | DrugMAP

General Information of Disease (ID: DISKRG1A)

Disease Name	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Synonyms	mtDNA depletion syndrome, hepatocerebrorenal form
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DISXOJLH: Mitochondrial DNA depletion syndrome, hepatocerebral form DISKRG1A: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Disease Identifiers	MONDO ID MONDO_0018197 UMLS CUI C5190602 MedGen ID 1674910 Orphanet ID 363534 SNOMED CT ID 782771007

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
TWNK	OTUD091O	Supportive	Autosomal recessive	[1]
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References

1	Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31.