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IEMbase 0725: COX15-related cytochrome c oxidase assembly factor 15 deficiency

Scope

Field Value
IEMbase ID 725
Nosology 7.4.03.01
Nosology code IEM0471
Gene COX15
External IDs OMIM:615119; OMIM:256000; ORPHA:1561
Generated mapping MAPPED to COX15-Related_COX_Deficiency.yaml
Candidate DisMech targets COX15-Related_COX_Deficiency.yaml is exact local coverage
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive COX15-related cytochrome c oxidase assembly factor 15 deficiency. The alternate names include Leigh syndrome due to cytochrome c oxidase deficiency and fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2.

The cached rows include increased plasma lactate from neonatal through adolescent windows, possible basal ganglia MRI abnormalities, possible neonatal hypertrophic cardiomyopathy, hypotonia, Leigh syndrome, possible perinatal death, developmental delay, and neonatal epilepsy.

DisMech phenotype coverage

DisMech has exact local coverage in COX15-Related_COX_Deficiency.yaml. The entry resolves to MONDO:0014051, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2, and describes COX15 as heme A synthase, the final enzyme in heme A biosynthesis for complex IV.

Local phenotype coverage is strong for early-onset fatal hypertrophic cardiomyopathy and lactic acidosis, with Leigh syndrome represented in the description and genetic narrative.

Concordance and completeness

Judgement: correct exact mapping with high identity.

The IEMbase record and local entry align on COX15, the fatal infantile COX deficiency type 2 identity, heme A biosynthesis, cardiomyopathy, lactate, and Leigh context. IEMbase adds more granular age-banded phenotype prompts, including basal ganglia MRI abnormalities, hypotonia, perinatal death, developmental delay, and epilepsy.

Curation actions

  • Keep COX15-Related_COX_Deficiency.yaml as the canonical target.
  • Preserve the exact fatal infantile cardioencephalomyopathy type 2 alias.
  • Consider reviewing local COX15 phenotypes for basal ganglia MRI changes, hypotonia, perinatal death, developmental delay, and epilepsy.
  • Keep broader Leigh syndrome context secondary to the COX15-specific disease identity.