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mitochondrial complex II deficiency
Summary
- Synonym
-
- isolated mitochondrial respiratory chain complex II deficiency
- isolated succinate-CoQ reductase deficiency
- isolated succinate-coenzyme Q reductase deficiency
- isolated succinate-ubiquinone reductase deficiency
- Definition
- A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
- Super Class
- mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0060537
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003487 | Babinski sign |
| HP:0003508 | Proportionate short stature |
| HP:0003510 | Severe short stature |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003756 | Skeletal myopathy |
| HP:0005150 | Abnormal atrioventricular conduction |
| HP:0005162 | Abnormal left ventricular function |
| HP:0006380 | Knee flexion contracture |
| HP:0006801 | Hyperactive deep tendon reflexes |
