Details of Disease

General Information of Disease (ID: DISOHOUN)

• Disease Name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
• Synonyms: cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis; combined oxidative phosphorylation deficiency 10; combined oxidative phosphorylation defect type 10; MTO1 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 10; combined oxidative phosphorylation deficiency caused by mutation in MTO1; COXPD10; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
• Definition: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISOHOUN: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013865
  UMLS CUI: C4749921
  OMIM ID: 614702
  MedGen ID: 1664257
  Orphanet ID: 314637
  SNOMED CT ID: 771478008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTO1	OT7HCZ1D	Definitive	Autosomal recessive	[1]

References

• [1] Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17.