Details of Disease | DrugMAP

General Information of Disease (ID: DISJ424P)

Disease Name	Mitochondrial complex II deficiency, nuclear type 1
Synonyms	mitochondrial complex 2 deficiency; succinate CoQ reductase deficiency; mitochondrial respiratory chain complex II deficiency; complex 2 mitochondrial respiratory chain deficiency; succinate dehydrogenase deficiency; isolated mitochondrial respiratory chain complex II deficiency; mitochondrial complex II deficiency, nuclear type 1; isolated succinate-CoQ reductase deficiency; isolated succinate-ubiquinone reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; mitochondrial complex II deficiency
Definition	Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.
Disease Hierarchy	DISDSOUD: Mitochondrial complex II deficiency, nuclear type DISJ424P: Mitochondrial complex II deficiency, nuclear type 1
Disease Identifiers	MONDO ID MONDO_0100294 UMLS CUI C5700310 OMIM ID 252011 MedGen ID 1814582 Orphanet ID 3208

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SDHD	TTVH9W8	Strong	Autosomal recessive	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SDHA	OTOJ8QFF	Strong	Autosomal recessive	[2]
SDHD	OTYZ8XRH	Strong	Autosomal recessive	[1]
SDHAF1	OTDG5VW7	Definitive	Autosomal recessive	[3]
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References

1	The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. Eur J Hum Genet. 2010 Jan;18(1):62-6. doi: 10.1038/ejhg.2009.112.
2	Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet. 2000 Feb;106(2):236-43. doi: 10.1007/s004390051033.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.