hemochromatosis type 5
MONDO:0014225Mondo
Findings
No curated finding names hemochromatosis type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014225), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
8 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
- 1 of 1 reported patient
- Elevated hepatic iron concentrationHPOHP:0012465
- 1 of 1 reported patient
- Elevated transferrin saturationHPOHP:0012463
- 1 of 1 reported patient
- Increased circulating ferritin concentrationHPOHP:0003281
- 4 of 4 reported patients
- Abnormal circulating ceruloplasmin concentrationHPOHP:0033144
- 0 of 4 reported patients
- Abnormal circulating copper concentrationHPOHP:0010836
- 0 of 4 reported patients
- Abnormal circulating transferrin concentration
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.
- FTH1HGNC:3976
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · ClinGen · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: hemochromatosis type 5
- Also called
- FTH1 hereditary hemochromatosisFTH1-associated iron overloadFTH1-related iron overloadhereditary hemochromatosis caused by mutation in FTH1HFE5