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mitochondrial complex I deficiency

Human disease
MedicalCondition developmental_defect_during_embryogenesis Q23542367
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mitochondrial complex I deficiency

Summary

mitochondrial complex I deficiency is a developmental defect during embryogenesis[1].

Key Facts

  • mitochondrial complex I deficiency's instance of is recorded as developmental defect during embryogenesis[2].
  • mitochondrial complex I deficiency's instance of is recorded as rare disease[3].
  • mitochondrial complex I deficiency's instance of is recorded as class of disease[4].
  • mitochondrial complex I deficiency's subclass of is recorded as mitochondrial disease[5].
  • mitochondrial complex I deficiency's subclass of is recorded as isolated oxidative phosphorylation complex disorder[6].
  • mitochondrial complex I deficiency's subclass of is recorded as syndromic neurometabolic disease with X-linked intellectual disability[7].
  • mitochondrial complex I deficiency's subclass of is recorded as mitochondrial myopathy[8].
  • mitochondrial complex I deficiency's subclass of is recorded as mitochondrial complex deficiency[9].
  • mitochondrial complex I deficiency's MeSH descriptor ID is recorded as C537475[10].
  • mitochondrial complex I deficiency's OMIM ID is recorded as 252010[11].
  • mitochondrial complex I deficiency's KEGG ID is recorded as H00473[12].
  • mitochondrial complex I deficiency's Disease Ontology ID is recorded as DOID:0060536[13].
  • mitochondrial complex I deficiency's Orphanet ID is recorded as 2609[14].
  • mitochondrial complex I deficiency's NCI Thesaurus ID is recorded as C98994[15].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFS4[16].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFV1[17].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFA11[18].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFA1[19].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFB3[20].
  • mitochondrial complex I deficiency's genetic association is recorded as NUBPL[21].
  • mitochondrial complex I deficiency's genetic association is recorded as FOXRED1[22].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFS2[23].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFAF1[24].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFS3[25].
  • mitochondrial complex I deficiency's genetic association is recorded as NDUFAF2[26].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . Q905695. Retrieved . wikidata.org.
  16. [17] ↑ . Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. wikidata.org.
  17. [18] ↑ . Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.. wikidata.org.
  18. [19] ↑ . SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.. wikidata.org.
  19. [20] ↑ . Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. wikidata.org.
  20. [21] ↑ . High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. wikidata.org.
  21. [22] ↑ . High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. wikidata.org.
  22. [23] ↑ . Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. wikidata.org.
  23. [24] ↑ . Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. wikidata.org.
  24. [25] ↑ . Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. wikidata.org.
  25. [26] ↑ . A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). mitochondrial complex I deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/mitochondrial-complex-i-deficiency
MLA “mitochondrial complex I deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/mitochondrial-complex-i-deficiency.
BibTeX @misc{4ortxyz_mitochondrial-complex-i-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{mitochondrial complex I deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/mitochondrial-complex-i-deficiency}, note = {Accessed: 2026-05-03}}
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