pancreatic insufficiency-anemia-hyperostosis syndrome
Findings
No curated finding names pancreatic insufficiency-anemia-hyperostosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0012992), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anemia of inadequate productionHPOHP:0010972
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- AsthmaHPOHP:0002099
- 4 of 5 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 4 of 5 reported patients
- Calvarial hyperostosisHPOHP:0004490
- 3 of 5 reported patients
- Carious teethHPOHP:0000670
- 3 of 5 reported patients
- Delayed skeletal maturationHPOHP:0002750
Show the remaining 3
- Allergic rhinitisHPOHP:0003193
- 1 of 5 reported patients
- JaundiceHPOHP:0000952
- 1 of 5 reported patients
- Global developmental delayHPOHP:0001263
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COX4I2HGNC:16232
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: pancreatic insufficiency-anemia-hyperostosis syndrome
- Also called
- pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome