hemochromatosis type 1
MONDO:0021001Mondo
Findings
No curated finding names hemochromatosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
Definition from the Mondo Disease Ontology (MONDO:0021001), read 2026-09-29. CC BY 4.0.
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.
- HFEHGNC:4886
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: hemochromatosis type 1
- Also called
- C282Y/C282Y hemochromatosisclassic hemochromatosishemochromatosishemochromatosis, type 1HFE-associated hereditary hemochromatosisHFE-related hemochromatosisHFE1