Search Ontology:
Human Disease

mitochondrial complex II deficiency

Term ID
DOID:0060537
Synonyms
  • isolated mitochondrial respiratory chain complex II deficiency
  • isolated succinate-coenzyme Q reductase deficiency
  • isolated succinate-CoQ 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. https://www.ncbi.nlm.nih.gov/pubmed/23322652
References
Ontology
Human Disease   ( DOID:0060537 )
Relationships
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Genes Involved
Zebrafish Models