Clinical Trials
1
Total Trials
1
Recruiting
0
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormality of movement
Very frequent (80-99%)HP:0100022
Higher than normal levels of lactate in blood
Very frequent (80-99%)HP:0002151
Hypotonia, early
Very frequent (80-99%)HP:0008947
Increased CSF lactic acid
Very frequent (80-99%)HP:0002490
Increased urine lactate
Very frequent (80-99%)HP:0003648
Lacticacidosis
Very frequent (80-99%)HP:0003128
Abnormal basal ganglia MRI signal intensity
Frequent (30-79%)HP:0012751
Abnormal brainstem MRI signal intensity
Frequent (30-79%)HP:0012747
Abnormal thalamic MRI signal intensity
Frequent (30-79%)HP:0012696
Abnormality of the dentate nucleus
Frequent (30-79%)HP:0100321
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Complex organic aciduria
Frequent (30-79%)HP:0008336
Decreased activities of mitochondrial-encoded respiratory chain complexes
Frequent (30-79%)HP:0008972
Decreased activity of the pyruvate dehydrogenase complex
Frequent (30-79%)HP:0002928
Diffuse spongiform leukoencephalopathy
Frequent (30-79%)HP:0006943
Elevated brain lactate level by MRS
Frequent (30-79%)HP:0012707
Excess astrocytes in brain
Frequent (30-79%)HP:0002171
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Feeding difficulties
Frequent (30-79%)HP:0011968
Focal T2 hyperintense brainstem lesion
Frequent (30-79%)HP:0012748
Hyperintense lesions in the basal ganglia on MRI
Frequent (30-79%)HP:0007183
Increased hair growth on body
Frequent (30-79%)HP:0000998
Involuntary movements
Frequent (30-79%)HP:0004305
Leukodystrophy
Frequent (30-79%)HP:0002415
Loss of acquired milestones
Frequent (30-79%)HP:0002376
Mental and motor retardation
Frequent (30-79%)HP:0001263
Optic atrophy
Frequent (30-79%)HP:0000648
optic nerve abnormalities
Frequent (30-79%)HP:0000587
Related Conditions
Maternally inherited Leigh syndrome(child)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type(child)
Leigh syndrome due to cytochrome C oxidase deficiency(child)
System disorder of the nervous system(parent)
Hereditary degenerative disease of central nervous system(parent)
Degenerative brain disorder(parent)
Quick Facts
- SNOMED CT
- 29570005
- UMLS CUI
- C0023264
- Fully Specified Name
- Leigh's disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Clinical Trials
- 1
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.