isolated hyperferritinemia
MONDO:0958237Mondo
Findings
No curated finding names isolated hyperferritinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Abnormal circulating ferritin concentrationHPOHP:0040133
- 12 of 12 reported patients
- Elevated circulating hepcidin concentrationHPOHP:0031877
- 12 of 12 reported patients
- Abnormal circulating iron concentrationHPOHP:0040130
- 0 of 12 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 0 of 12 reported patients
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.
- STAB1HGNC:18628
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: isolated hyperferritinemia
- Also called
- hyperferritinemia