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Mitochondrial complex IV deficiency, nuclear-type

rare

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.

Identifiers
MONDO:0033885 Orphanet:254905
Part of
Mitochondrial respiratory chain complex deficiency
Also known as
complex 4 mitochondrial respiratory chain deficiency · complex IV deficiency · COX deficiency · Cytochrome C Oxidase Deficiency · cytochrome-C oxidase deficiency

Subtypes

All diseases Rare only
Disease
  1. COX deficiency, benign infantile mitochondrial myopathy MONDO:0957524
  2. Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 SCO2
  3. Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0014051 COX15
  4. Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0014667 COA5
  5. Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0014668 COA6
  6. Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0009069 LRPPRC
  7. Mitochondrial complex 4 deficiency, nuclear type 25 MONDO:0980970
  8. Mitochondrial complex IV deficiency, nuclear type 1 MONDO:0700250 SURF1
  9. Mitochondrial complex IV deficiency, nuclear type 10 MONDO:0033639 COX14
  10. Mitochondrial complex IV deficiency, nuclear type 11 MONDO:0033645 COX20
  11. Mitochondrial complex IV deficiency, nuclear type 12 MONDO:0033646 PET100
  12. Mitochondrial complex IV deficiency, nuclear type 14 MONDO:0033649 COA3
  13. Mitochondrial complex IV deficiency, nuclear type 15 MONDO:0033650 COX8A
  14. Mitochondrial complex IV deficiency, nuclear type 16 MONDO:0033651 COX4I1
  15. Mitochondrial complex IV deficiency, nuclear type 17 MONDO:0033652 COA8
  16. Mitochondrial complex IV deficiency, nuclear type 18 MONDO:0033653 COX6A2
  17. Mitochondrial complex IV deficiency, nuclear type 19 MONDO:0033654 PET117
  18. Mitochondrial complex IV deficiency, nuclear type 20 MONDO:0033655 COX5A
  19. Mitochondrial complex IV deficiency, nuclear type 21 MONDO:0033656 COXFA4
  20. Mitochondrial complex IV deficiency, nuclear type 22 MONDO:0859160 COX16
  21. Mitochondrial complex IV deficiency, nuclear type 23 MONDO:0859520 COX11
  22. Mitochondrial complex IV deficiency, nuclear type 24 MONDO:0980755 FASTKD5
  23. Mitochondrial complex IV deficiency, nuclear type 3 MONDO:0033635 COX10
  24. Mitochondrial complex IV deficiency, nuclear type 4 MONDO:0033636 SCO1
  25. Mitochondrial complex IV deficiency, nuclear type 7 MONDO:0033637 COX6B1
  26. Mitochondrial complex IV deficiency, nuclear type 8 MONDO:0033638 TACO1
  27. Pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0012992 COX4I2

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