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Pancreatic insufficiency-anemia-hyperostosis syndrome
rareA rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
- Identifiers
- MONDO:0012992 OMIM:612714Orphanet:199337
- Causal genes
- COX4I2
- Part of
- Congenital dyserythropoietic anemiaExocrine pancreatic insufficiencyMitochondrial complex IV deficiency, nuclear-typeSkeletal dysplasia
- Also known as
- pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
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