mitochondrial complex I deficiency
Information
- Disease name
- mitochondrial complex I deficiency
- Disease ID
- DOID:0060536
- Description
- "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded." [url:http\://www.omim.org/entry/252010]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05162768 | Active, not recruiting | Phase 3 | Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) | April 29, 2022 | October 2024 |
- Disase is a (Disease Ontology)
- DOID:700
- Cross Reference ID (Disease Ontology)
- GARD:3908
- Cross Reference ID (Disease Ontology)
- MESH:C537475
- Cross Reference ID (Disease Ontology)
- MIM:252010
- Cross Reference ID (Disease Ontology)
- ORDO:2609
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:237988006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1838979
- Exact Synonym (Disease Ontology)
- isolated mitochondrial respiratory chain complex I deficiency
- Exact Synonym (Disease Ontology)
- isolated NADH-coenzyme Q reductase deficiency
- Exact Synonym (Disease Ontology)
- isolated NADH-CoQ reductase deficiency
- Exact Synonym (Disease Ontology)
- isolated NADH-ubiquinone reductase deficiency