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hemochromatosis type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemochromatosis type 4

MONDO:0011631

Also known as:Ferroportin DiseaseHFE4SLC40A1 hereditary hemochromatosis

Overview

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.

GeneticsAutosomal dominant · SLC40A1 (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Elevated ferritin (iron storage marker) (increased circulating ferritin concentration); and sometimes findings: Hepatic steatosis, Liver scarring (cirrhosis) (cirrhosis), Enlarged liver (hepatomegaly), and Arrhythmia and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Hepatic steatosis, Liver scarring (cirrhosis) (cirrhosis), Enlarged liver (hepatomegaly)

Genetic Landscape

SLC40A1 function has not been fully characterized.

Hemochromatosis type 4 is associated with mutations in the SLC40A1 gene on chromosome 2.

Diagnosis

Genetic testing for SLC40A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hemochromatosis type 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hemochromatosis type 4.

23 publications have been identified in PubMed for hemochromatosis type 4. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (26%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Research summaries	6	26%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606069

Orphanet

European rare disease database

Orphanet:139491 Orphanet:647834 Orphanet:648562

GARD

Genetic and Rare Diseases Info Center

GARD:10094

Questions for Your Care Team

→Should I pursue genetic testing for SLC40A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hemochromatosis type 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hemochromatosis type 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications