Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000076 | Vesicoureteral reflux |
| HP:0000478 | Abnormality of the eye |
| HP:0000544 | External ophthalmoplegia |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000618 | Blindness |
| HP:0000639 | Nystagmus |
| HP:0000726 | Dementia |
| HP:0000737 | Irritability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
