Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Brisk deep tendon reflexes
Always present (100%)HP:0001348
Decreased activity of cytochrome C oxidase in muscle tissue
Always present (100%)HP:0003688
Extraocular muscle palsy
Always present (100%)HP:0000597
Generalised decreased muscle tone
Always present (100%)HP:0001290
Instability or lack of coordination of central trunk muscles
Always present (100%)HP:0002078
Lacticacidemia
Always present (100%)HP:0003128
Loss of milestones
Always present (100%)HP:0002376
Optic atrophy
Always present (100%)HP:0000648
Peripheral hypotonia
Always present (100%)HP:0001252
Respiratory failure
Always present (100%)HP:0002878
Undergrowth
Always present (100%)HP:0001508
Cardiomyopathy, hypertrophic
HP:0001639
De toni-fanconi-debre syndrome
HP:0001994
Delayed motor milestones
HP:0001270
Enlarged liver
HP:0002240
Epilepsy
HP:0001250
Exertional dyspnea
HP:0002875
Eyelid ptosis
HP:0000508
Glucose in urine
HP:0003076
High arched palate
HP:0000218
High urine phosphate levels
HP:0003109
Higher than normal levels of lactate in blood
HP:0002151
Increased CSF lactic acid
HP:0002490
Increased hepatocellular lipid droplets
HP:0006565
Increased intramyocellular lipid droplets
HP:0012240
Increased levels of animo acids in urine
HP:0003355
Laboured breathing
HP:0002098
Leukoencephalopathy
HP:0002352
Liver dysfunction
HP:0001410
Related Conditions
Fatal infantile cytochrome C oxidase deficiency(child)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type(child)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome(child)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency(child)
Mitochondrial respiratory chain complex IV assembly gene defect(child)
Mitochondrial respiratory chain complex IV structural subunit gene defect(child)
Isolated COX (cytochrome C oxidase) deficiency(child)
Deficiency in enzyme complexes of mitochondrial respiratory chain(parent)
Mitochondrial cytopathy(parent)
Quick Facts
- SNOMED CT
- 67434000
- UMLS CUI
- C0268237
- Fully Specified Name
- Cytochrome-c oxidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.