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IEMbase 0732: COX6B1-related cytochrome c oxidase subunit 6B1 deficiency

Scope

Field Value
IEMbase ID 732
Nosology 7.4.06.02
Nosology code IEM0467
Gene COX6B1
External IDs OMIM:220110; ORPHA:254905
Generated mapping UNMAPPED; weak candidate COX6B1-Related_COX_Deficiency.yaml
Candidate DisMech targets COX6B1-Related_COX_Deficiency.yaml is exact local coverage
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive COX6B1-related cytochrome c oxidase subunit 6B1 deficiency. The cached rows include increased plasma lactate across age windows, possible neonatal/infantile/childhood cardiomyopathy and encephalopathy, childhood leukodystrophy, childhood/adolescent myopathy, and possible childhood epilepsy.

DisMech phenotype coverage

DisMech has exact local coverage in COX6B1-Related_COX_Deficiency.yaml. The entry resolves to mitochondrial complex IV deficiency nuclear type 7 (MONDO:0033637) and describes biallelic COX6B1 variants as loss of a nuclear-encoded structural subunit of complex IV.

Local phenotype coverage includes severe infantile encephalomyopathy, hydrocephalus, and hypertrophic cardiomyopathy, with the structural-subunit mechanism and reduced COX activity captured in detail.

Concordance and completeness

Judgement: false negative from the generated mapper. The correct target is COX6B1-Related_COX_Deficiency.yaml.

The IEMbase and local records align on COX6B1, autosomal recessive complex IV structural-subunit disease, encephalopathy, and cardiomyopathy. IEMbase adds age-banded lactate, leukodystrophy, myopathy, and epilepsy prompts, while DisMech adds hydrocephalus and stronger mechanism/evidence context.

Curation actions

  • Resolve IEMbase 732 to COX6B1-Related_COX_Deficiency.yaml.
  • Treat the generated UNMAPPED status as stale or overly strict.
  • Consider reviewing local COX6B1 phenotypes for lactate elevation, leukodystrophy, myopathy, and epilepsy.
  • Preserve local hydrocephalus and structural-subunit mechanism detail.