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
Displaying all 4 entries
Gene ID Gene Symbol Description Source
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D
6652 SORD sorbitol dehydrogenase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
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
Displaying all 3 entries
Gene ID Gene Symbol Description
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024