Mitochondrial Complex Iv Deficiency, Nuclear Type 1 (MC4DN1)

Alias:

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cytochrome-C Oxidase Deficiency Disease

Cytochrome-C Oxidase Deficiency

Cox Deficiency

Mc4dn1

Mc1dn4

Mitochondrial Complex I Deficiency, Nuclear Type 4

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency

Complex Iv Mitochondrial Respiratory Chain Deficiency

Complex 4 Mitochondrial Respiratory Chain Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Mitochondrial Complex Iv Deficiency Nuclear Type 1

Nuclear Type Mitochondrial Complex I Deficiency 4

Mi Complex I Deficiency, Nuclear Type 4

Complex Iv Deficiency

Mt-C4d

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Complex Iv Deficiency, Nuclear Type 1, also known as cytochrome c oxidase deficiency, is related to cox deficiency, infantile mitochondrial myopathy and mitochondrial myopathy, infantile, transient, and has symptoms including ataxia, dyspnea and seizures. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 1 is SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor), and among its related pathways/superpathways are Metabolism and Cellular responses to stimuli. Affiliated tissues include liver and brain, and related phenotypes are failure to thrive and ataxia

Related ID：

MALACARDS：MTC205

OMIM：220110

MESH：D028361