Details of Disease | DrugMAP

General Information of Disease (ID: DISH6GS5)

Disease Name	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Synonyms	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; MTDPS12A; mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A; mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DISH6GS5: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Disease Identifiers	MONDO ID MONDO_0014959 UMLS CUI C4310676 OMIM ID 617184 MedGen ID 934643

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	TTU5A6Q	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	DTPTFKU	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	OTKYLK2J	Strong	Autosomal dominant	[2]
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References

1	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
2	Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29.