Mitochondrial Complex Ii Deficiency, Nuclear Type 1 (MC2DN1)

Alias:

Mc1dn2

Mitochondrial Complex I Deficiency, Nuclear Type 2

Mitochondrial Complex 1 Deficiency, Nuclear Type 2

Succinate Coq Reductase Deficiency

Succinate Dehydrogenase Deficiency

Mc2dn1

Complex Ii Mitochondrial Respiratory Chain Deficiency

Mitochondrial Respiratory Chain Complex Ii Deficiency

Complex 2 Mitochondrial Respiratory Chain Deficiency

Nuclear Type Mitochondrial Complex I Deficiency 2

Sdh-Defective Infantile Leukoencephalopathy

Mi Complex I Deficiency, Nuclear Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Complex Ii Deficiency, Nuclear Type 1, also known as mc1dn2, is related to mitochondrial complex ii deficiency and paraganglioma. An important gene associated with Mitochondrial Complex Ii Deficiency, Nuclear Type 1 is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and glycolysis (BioCyc). The drugs Azacitidine and D-Phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are dysarthria and hypotonia

Related ID：

MALACARDS：MTC207

OMIM：252011

MESH：D017237