hemochromatosis type 3
Findings
No curated finding names hemochromatosis type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 3 hemochromatosis is a 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:0011417), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
24 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 transferrin saturationHPOHP:0012463
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Chronic fatigueHPOHP:0012432
- Frequent (30% to 79% of cases)
- Decreased circulating hepcidin concentrationHPOHP:0031876
- Frequent (30% to 79% of cases)
- Elevated circulating iron concentrationHPOHP:0003452
Show the remaining 12
- Atrioventricular blockHPOHP:0001678
- Occasional (5% to 29% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- 2 of 7 reported patients
- Occasional (5% to 29% of cases)
- Decreased QRS voltageHPOHP:0025077
- Occasional (5% to 29% of cases)
- Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
- Hepatic fibrosisHPOHP:0001395
- Occasional (5% to 29% of cases)
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.
- TFR2HGNC:11762
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- 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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: hemochromatosis type 3
- Also called
- hereditary hemochromatosis caused by mutation in TFR2HFE3TFR2 hereditary hemochromatosisTFR2-related hemochromatosis