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IEMbase 0728: SCO2-related myopia 6

Scope

Field Value
IEMbase ID 728
Nosology 7.4.06.01
Nosology code IEM0474
Gene SCO2
External IDs OMIM:604377; OMIM:608908; ORPHA:98619
Generated mapping MAPPED to SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml
Candidate DisMech targets SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml is exact for the fatal COX-deficiency phenotype
Review date 2026-07-07

IEMbase phenotype signal

The IEMbase primary name is SCO2-related myopia 6, but the alternate-name field and phenotype rows strongly point to fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1. The cached rows include increased CSF and plasma lactate, hypertrophic cardiomyopathy, dystonia, epilepsy, hypotonia, Leigh syndrome, distal muscular atrophy, peripheral neuropathy, nystagmus, perinatal death, ptosis, respiratory failure, psychomotor retardation, and muscle weakness.

DisMech phenotype coverage

DisMech has exact coverage for the fatal infantile COX-deficiency phenotype in SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml. The entry resolves to MONDO:0011451 and describes biallelic SCO2 variants as a copper-delivery defect affecting the CuA center of COX2, with fatal infantile hypertrophic cardiomyopathy, encephalopathy, hypotonia, and lactic acidosis.

Concordance and completeness

Judgement: correct mapping for the fatal infantile cardioencephalomyopathy entity, with a source-label caveat.

The local target is appropriate for the phenotype and alternate name in the IEMbase record. The "myopia 6" primary label should not override the clear fatal COX-deficiency phenotype signal. IEMbase is more granular for neurologic, neuromuscular, respiratory, ocular-motor, and age-banded lactate features, while DisMech is stronger for SCO2 copper-delivery mechanism and disease identity.

Curation actions

  • Keep SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml as the canonical target for the fatal infantile COX-deficiency content.
  • Preserve the IEMbase primary-name anomaly as a source-label caveat.
  • Consider reviewing local SCO2 phenotypes for dystonia, epilepsy, Leigh syndrome, distal muscular atrophy, peripheral neuropathy, nystagmus, ptosis, respiratory failure, psychomotor retardation, and muscle weakness.
  • Avoid treating myopia 6 as the operative disease identity for this IEMbase row unless future source review splits the record.