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GTR Home > Conditions/Phenotypes > Pancreatic insufficiency-anemia-hyperostosis syndrome

Pancreatic insufficiency-anemia-hyperostosis syndrome

Synonyms
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive. [from SNOMEDCT_US]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COX4, COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2, COX4I2
    Summary: cytochrome c oxidase subunit 4I2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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