OBO ID: DOID:0060537
Term Name: mitochondrial complex II deficiency Search Ontology:
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
is a type of:
OTHER mitochondrial complex II deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SDHA Mitochondrial complex II deficiency, nuclear type 1 252011
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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