Leigh disease
Information
- Disease name
- Leigh disease
- Disease ID
- DOID:3652
- Description
- "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." [url:http\://en.wikipedia.org/wiki/Leigh%27s_disease, url:http\://ghr.nlm.nih.gov/condition/leigh-syndrome, url:https\://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/, url:https\://rarediseases.org/rare-diseases/leigh-syndrome/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04378075 | Completed | Phase 2/Phase 3 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | September 28, 2020 | December 27, 2023 |
| NCT01780168 | Recruiting | The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism | December 31, 2012 | ||
| NCT03137355 | Recruiting | The International Registry for Leigh Syndrome | June 17, 2015 | June 17, 2030 |
- Disase is a (Disease Ontology)
- DOID:3762
- Cross Reference ID (Disease Ontology)
- GARD:6877
- Cross Reference ID (Disease Ontology)
- ICD10CM:G31.82
- Cross Reference ID (Disease Ontology)
- MESH:D007888
- Cross Reference ID (Disease Ontology)
- MIM:256000
- Cross Reference ID (Disease Ontology)
- NCI:C84814
- Cross Reference ID (Disease Ontology)
- ORDO:506
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:29570005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0023264
- Exact Synonym (Disease Ontology)
- Infantile necrotizing encephalomyelopathy
- Exact Synonym (Disease Ontology)
- juvenile subacute necrotizing encephalomyelopathy
- Exact Synonym (Disease Ontology)
- Leigh syndrome
- Disase Synonym (Disease Ontology)
- subacute necrotizing encephalomyelopathy
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007888