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 is a type of mitochondrial disease^[5].
mitochondrial complex I deficiency is a type of isolated oxidative phosphorylation complex disorder^[6].
mitochondrial complex I deficiency is a type of syndromic neurometabolic disease with X-linked intellectual disability^[7].
mitochondrial complex I deficiency is a type of mitochondrial myopathy^[8].
mitochondrial complex I deficiency is a type of mitochondrial complex deficiency^[9].
mitochondrial complex I deficiency's NCI Thesaurus ID is recorded as C98994^[10].
mitochondrial complex I deficiency's genetic association is recorded as NDUFS4^[11].
mitochondrial complex I deficiency's genetic association is recorded as NDUFV1^[12].
mitochondrial complex I deficiency's genetic association is recorded as NDUFA11^[13].
mitochondrial complex I deficiency's genetic association is recorded as NDUFA1^[14].
mitochondrial complex I deficiency's genetic association is recorded as NDUFB3^[15].
mitochondrial complex I deficiency's genetic association is recorded as NUBPL^[16].
mitochondrial complex I deficiency's genetic association is recorded as FOXRED1^[17].
mitochondrial complex I deficiency's genetic association is recorded as NDUFS2^[18].
mitochondrial complex I deficiency's genetic association is recorded as NDUFAF1^[19].
mitochondrial complex I deficiency's genetic association is recorded as NDUFS3^[20].
mitochondrial complex I deficiency's genetic association is recorded as NDUFAF2^[21].
mitochondrial complex I deficiency's genetic association is recorded as NDUFAF4^[22].
mitochondrial complex I deficiency's genetic association is recorded as NDUFAF3^[23].
mitochondrial complex I deficiency's genetic association is recorded as NDUFS6^[24].
mitochondrial complex I deficiency's genetic association is recorded as NDUFV2^[25].
mitochondrial complex I deficiency's genetic association is recorded as NDUFS1^[26].

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Quick Facts

Instance of rare disease, class of disease

Subclass of mitochondrial disease, isolated oxidative phosphorylation complex disorder, syndromic neurometabolic disease with X-linked intellectual disability, mitochondrial myopathy, mitochondrial complex deficiency, developmental defect during embryogenesis

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association NDUFS4, NDUFV1, NDUFA11, NDUFA1, NDUFB3, NUBPL, FOXRED1, NDUFS2, NDUFAF1, NDUFS3, NDUFAF2, NDUFAF4, NDUFAF3, NDUFS6, NDUFV2, NDUFS1

Nci thesaurus id C98994

On focus list of wikimedia project WikiProject Medicine

External References (11)

Disease ontology id DOID:0060536

Gard rare disease id 3908

Genetics home reference conditions id mitochondrial-complex-i-deficiency

Icd-10-cm G71.3

Kegg id H00473

Mesh descriptor id C537475

Mondo id MONDO_0009640

Omim id 252010

Orphanet id 2609

Umls cui C1838979, C2936907

Uniprot disease id DI-01981

References

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

Direct Wikidata claims

[2] ↑ mitochondrial complex I deficiency — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ mitochondrial complex I deficiency — instance of (P31): rare disease. wikidata.org.
[4] ↑ mitochondrial complex I deficiency — instance of (P31): class of disease. wikidata.org.
[5] ↑ mitochondrial complex I deficiency — subclass of (P279): mitochondrial disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ mitochondrial complex I deficiency — subclass of (P279): isolated oxidative phosphorylation complex disorder. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ mitochondrial complex I deficiency — subclass of (P279): syndromic neurometabolic disease with X-linked intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ mitochondrial complex I deficiency — subclass of (P279): mitochondrial myopathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ mitochondrial complex I deficiency — subclass of (P279): mitochondrial complex deficiency. wikidata.org.
[10] ↑ mitochondrial complex I deficiency — NCI Thesaurus ID (P1748): C98994. wikidata.org.
[11] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFS4. Q905695. Retrieved 2019-08-13. wikidata.org.
[12] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFV1. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. wikidata.org.
[13] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFA11. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.. wikidata.org.
[14] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFA1. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.. wikidata.org.
[15] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFB3. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. wikidata.org.
[16] ↑ mitochondrial complex I deficiency — genetic association (P2293): NUBPL. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. wikidata.org.
[17] ↑ mitochondrial complex I deficiency — genetic association (P2293): FOXRED1. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. wikidata.org.
[18] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFS2. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. wikidata.org.
[19] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFAF1. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. wikidata.org.
[20] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFS3. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. wikidata.org.
[21] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFAF2. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. wikidata.org.
[22] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFAF4. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. wikidata.org.
[23] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFAF3. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. wikidata.org.
[24] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFS6. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. wikidata.org.
[25] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFV2. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. wikidata.org.
[26] ↑ mitochondrial complex I deficiency — genetic association (P2293): NDUFS1. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. wikidata.org.

Class ancestry

[1] ↑ mitochondrial complex I deficiency is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. 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}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): mitochondrial complex I deficiency — https://4ort.xyz/entity/mitochondrial-complex-i-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/mitochondrial-complex-i-deficiency · Last refreshed: May 3, 2026

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

14d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0009640

Orphanet id → 2609

Imported from → —

Mesh descriptor id → C537475

+ 15 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"

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