mitochondrial complex IV deficiency, nuclear-type
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear-type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
Definition from the Mondo Disease Ontology (MONDO:0033885), read 2026-09-29. CC BY 4.0.
Genes
15 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRPPRCHGNC:15714
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- PET100HGNC:40038
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- COA3HGNC:24990
- Supportive · Orphanet · Autosomal recessive · 2021
- COX10HGNC:2260
- Supportive · Orphanet · Autosomal recessive · 2021
- COX14HGNC:28216
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- COX20HGNC:26970
- Supportive · Orphanet · Autosomal recessive · 2021
- COX4I1HGNC:2265
- Supportive · Orphanet · Autosomal recessive · 2021
- COX5AHGNC:2267
- Supportive · Orphanet · Autosomal recessive · 2021
- COX6A2HGNC:2279
- Supportive · Orphanet · Autosomal recessive · 2021
- COX6B1HGNC:2280
- Supportive · Orphanet · Autosomal recessive · 2021
- COX8AHGNC:2294
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- MT-CO1HGNC:7419
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-CO2HGNC:7421
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-CO3HGNC:7422
- Supportive · Orphanet · Autosomal recessive · 2021
- PET117HGNC:40045
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (22)
- COX deficiency, benign infantile mitochondrial myopathy
- mitochondrial complex 4 deficiency, nuclear type 25
- mitochondrial complex IV deficiency, nuclear type 1
- mitochondrial complex IV deficiency, nuclear type 10
- mitochondrial complex IV deficiency, nuclear type 11
- mitochondrial complex IV deficiency, nuclear type 12
- mitochondrial complex IV deficiency, nuclear type 14
- mitochondrial complex IV deficiency, nuclear type 15
- mitochondrial complex IV deficiency, nuclear type 16
- mitochondrial complex IV deficiency, nuclear type 17
- mitochondrial complex IV deficiency, nuclear type 18
- mitochondrial complex IV deficiency, nuclear type 19
- mitochondrial complex IV deficiency, nuclear type 20
- mitochondrial complex IV deficiency, nuclear type 21
- mitochondrial complex IV deficiency, nuclear type 22
Other names
7 names
Resolves to: mitochondrial complex IV deficiency, nuclear-type
- Also called
- Cytochrome C Oxidase Deficiencycytochrome-C oxidase deficiencycytochrome-c oxidase deficiency diseaseisolated COX deficiencyisolated mitochondrial respiratory chain complex IV deficiencymitochondrial complex IV deficiencymitochondrial respiratory complex IV deficiency