Details of Disease

General Information of Disease (ID: DISXF87Q)

• Disease Name: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
• Synonyms: mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); MTDPS12; mitochondrial DNA depletion syndrome type 12; mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR; mitochondrial DNA depletion syndrome 12; MTDPS12B; mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
• Definition: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
• Disease Hierarchy:
  DISIGZSM: Mitochondrial DNA depletion syndrome
  DISXF87Q: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0014175
  UMLS CUI: C3809443
  OMIM ID: 615418
  MedGen ID: 815773

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	TTU5A6Q	Strong	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	DTPTFKU	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	OTKYLK2J	Definitive	Autosomal recessive	[2]

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] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.