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Pancreatic insufficiency-anemia-hyperostosis syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
ORPHA:199337Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: 612714
- UMLS: C2675184
- MeSH: -
- GARD: -
- MedDRA: -
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.