hemochromatosis type 2
Findings
No curated finding names hemochromatosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Definition from the Mondo Disease Ontology (MONDO:0019257), read 2026-09-29. CC BY 4.0.
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.
- Abnormality of iron homeostasisHPOHP:0011031
- Very frequent (80% to 99% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Very frequent (80% to 99% of cases)
- Elevated transferrin saturationHPOHP:0012463
- Very frequent (80% to 99% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- Very frequent (80% to 99% of cases)
- ArthropathyHPOHP:0003040
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Frequent (30% to 79% of cases)
- HypogonadismHPOHP:0000135
- Frequent (30% to 79% of cases)
- ImpotenceHPOHP:0000802
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
Show the remaining 3
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Abnormality of endocrine pancreas physiologyHPOHP:0012093
- Occasional (5% to 29% of cases)
- OsteoporosisHPOHP:0000939
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: hemochromatosis type 2
- Also called
- Juvenile Hemochromatosis