hemochromatosis type 4
Findings
No curated finding names hemochromatosis type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.
Definition from the Mondo Disease Ontology (MONDO:0011631), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Hepatic steatosisHPOHP:0001397
- 3 of 11 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 20 reported patients
- Elevated transferrin saturationHPOHP:0012463
- 3 of 20 reported patients
- FatigueHPOHP:0012378
- 2 of 20 reported patients
- Hyperpigmentation of the skinHPOHP:0000953
- 2 of 20 reported patients
- OsteoarthritisHPOHP:0002758
- 2 of 20 reported patients
- CirrhosisHPOHP:0001394
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.
- SLC40A1HGNC:10909
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hemochromatosis type 4
- Also called
- Ferroportin Diseasehereditary hemochromatosis caused by mutation in SLC40A1HFE4SLC40A1 hereditary hemochromatosis