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IEMbase 0721: COA6-related cytochrome c oxidase assembly factor 6 deficiency

Scope

Field Value
IEMbase ID 721
Nosology 7.4.01.01
Nosology code IEM0469
Gene COA6
External IDs OMIM:616501; ORPHA:1561
Generated mapping CANDIDATE to COX15-Related_COX_Deficiency.yaml
Candidate DisMech targets No exact COA6 disease target identified
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive COA6-related cytochrome c oxidase assembly factor 6 deficiency. The alternate-name field links it to fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4.

The cached rows include increased plasma lactate in neonatal and infantile windows, perinatal death, and cardiomyopathy.

DisMech phenotype coverage

No exact standalone COA6 disease file was identified.

Local complex IV assembly context mentions COA6 as part of the copper-center assembly and metallochaperone network, and COX16-Related_COX_Deficiency.yaml mentions COA6 as a related partner. That is pathway context, not exact COA6 disease coverage.

The generated COX15-Related_COX_Deficiency.yaml candidate is a severe COX deficiency entry but represents COX15 heme A synthase disease, not COA6/type 4 cardioencephalomyopathy.

Concordance and completeness

Judgement: true local COA6 gap. The COX15 candidate should be rejected as exact coverage.

IEMbase supplies a compact but coherent neonatal/infantile COA6 phenotype: lactate elevation, cardiomyopathy, and perinatal death. Existing DisMech module mentions are useful for future mechanism placement but do not resolve the standalone disease.

Curation actions

  • Add a dedicated COA6 complex IV/COX assembly deficiency target if curated.
  • Reject COX15-Related_COX_Deficiency.yaml as exact COA6 coverage.
  • Preserve neonatal/infantile lactate elevation, cardiomyopathy, and perinatal death.
  • Reuse existing complex IV copper-center assembly context only as background.