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IEMbase 0730: COX4I2-related cytochrome c oxidase subunit 4I2 deficiency

Scope

Field Value
IEMbase ID 730
Nosology 7.4.04.02
Nosology code IEM0465
Gene COX4I2
External IDs OMIM:612714; ORPHA:199337
Generated mapping MAPPED to COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml
Candidate DisMech targets COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml is exact local coverage
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive COX4I2-related cytochrome c oxidase subunit 4I2 deficiency. The alternate name is exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. The cached phenotype rows are concise: neonatal through childhood exocrine pancreatic insufficiency, hepatomegaly, splenomegaly, and failure to thrive.

DisMech phenotype coverage

DisMech has exact local coverage in COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml. The entry resolves to MONDO:0012992 and describes EPIDACH as a tissue-biased complex IV structural-subunit disorder caused by biallelic COX4I2 variants.

Local phenotype coverage is broader than the IEMbase rows: congenital exocrine pancreatic insufficiency, steatorrhea, malabsorption of lipid-soluble vitamins, dyserythropoietic anemia, anemia, and calvarial hyperostosis.

Concordance and completeness

Judgement: correct exact mapping with high identity.

The IEMbase alternate name and local disease identity are the same EPIDACH entity. IEMbase adds hepatomegaly, splenomegaly, and age-banded failure to thrive, while DisMech is much richer for the defining anemia, hyperostosis, malabsorption, and COX4I2 tissue-biased mechanism.

Curation actions

  • Keep COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml as the canonical target.
  • Consider reviewing local EPIDACH phenotypes for hepatomegaly, splenomegaly, and age-banded failure to thrive.
  • Preserve local dyserythropoietic anemia and calvarial hyperostosis even though they are not in the cached IEMbase phenotype rows.
  • Keep COX4I2 distinct from the ubiquitous COX4I1 structural-subunit disease.