hemochromatosis type 2A
MONDO:0011216Mondo
Findings
No curated finding names hemochromatosis type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.
Definition from the Mondo Disease Ontology (MONDO:0011216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Elevated circulating iron concentrationHPOHP:0003452
- 7 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 7 of 7 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 4 of 4 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
- 6 of 7 reported patients
- CirrhosisHPOHP:0001394
- 2 of 4 reported patients
- CardiomyopathyHPOHP:0001638
- 2 of 7 reported patients
- Hyperpigmentation of the skinHPO
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.
- HJVHGNC:4887
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: hemochromatosis type 2A
- Also called
- hemochromatosis type 2 caused by mutation in HJVHFE2AHJV hemochromatosis type 2