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IEMbase 0727: SCO1-related mitochondrial complex IV deficiency

Scope

Field Value
IEMbase ID 727
Nosology 7.4.05.01
Nosology code IEM0473
Gene SCO1
External IDs OMIM:220110; ORPHA:1561
Generated mapping MAPPED to SCO1-Related_COX_Deficiency.yaml
Candidate DisMech targets SCO1-Related_COX_Deficiency.yaml is exact local coverage
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SCO1-related mitochondrial complex IV deficiency, with the alternate name mitochondrial complex IV deficiency nuclear type 4. The cached rows include increased plasma alanine, urinary dicarboxylic acids, increased CSF, plasma, and urinary lactate, brain atrophy on MRI, possible hypertrophic cardiomyopathy, hepatomegaly, hypotonia, lethargy, perinatal death, respiratory distress, psychomotor retardation, epilepsy, failure to thrive, feeding difficulties, and muscle weakness.

DisMech phenotype coverage

DisMech has exact local coverage in SCO1-Related_COX_Deficiency.yaml. The entry resolves to mitochondrial complex IV deficiency nuclear type 4 (MONDO:0033636) and describes biallelic SCO1 variants as a copper-delivery metallochaperone defect that impairs assembly of the COX CuA center.

Local phenotype coverage includes neonatal hepatic failure, encephalopathy, seizures, hypopituitarism, and lactic acidosis.

Concordance and completeness

Judgement: correct exact mapping with high identity.

The records align on SCO1, autosomal recessive MC4DN4, copper delivery, hepatic and neurologic involvement, and lactate/lactic acidosis. IEMbase is richer for age-banded biochemical compartments and several neonatal/infantile clinical features. DisMech adds progressive hypopituitarism from the expanded SCO1 phenotype, which is not represented in the cached IEMbase rows.

Curation actions

  • Keep SCO1-Related_COX_Deficiency.yaml as the canonical target.
  • Preserve IEMbase biochemical compartment detail for alanine, dicarboxylic acids, and CSF/plasma/urine lactate.
  • Consider reviewing local SCO1 phenotypes for brain atrophy, hypertrophic cardiomyopathy, respiratory distress, feeding difficulty, failure to thrive, muscle weakness, and perinatal death.
  • Keep local hypopituitarism content as complementary expanded-spectrum detail.