mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Findings
No curated finding names mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013865), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradycardiaHPOHP:0001662
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Lactic acidosisHPOHP:0003128
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- 3 of 3 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MTO1HGNC:19261
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Unknown · 2021
Where it sits
Other names
5 names
Resolves to: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Also called
- combined oxidative phosphorylation defect type 10combined oxidative phosphorylation deficiency caused by mutation in MTO1combined oxidative phosphorylation deficiency type 10COXPD10MTO1 combined oxidative phosphorylation deficiency