You are using an outdated browser. Please upgrade your browser to improve your experience.
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is 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.
Uniprot Description An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.
Mondo Term and Equivalent IDs
MONDO:0013865: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Download Data for mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111480
OMIM:614702
Orphanet:314637
UMLS:C3553529
MONDO:0013865
High level summary of knowledge for a disease, including descriptions and datasource references.