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hemochromatosis type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemochromatosis type 5

MONDO:0014225

Also known as:FTH1 hereditary hemochromatosisFTH1-associated iron overloadFTH1-related iron overload

Overview

Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.

GeneticsAutosomal dominant · FTH1 (chr 11)

ResearchLimited published research (2 articles)

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 always present findings: Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circulating iron concentration, and Elevated ferritin (iron storage marker) (increased circulating ferritin concentration). 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating iron concentration, Elevated ferritin (iron storage marker) (increased circulating ferritin concentration)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FTH1 encodes ferritin heavy chain 1 (183 aa). Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Highest expression in Cells Cultured fibroblasts (4,593 TPM) and Nerve Tibial (3,095 TPM).

Hemochromatosis type 5 has limited evidence linking it to mutations in the FTH1 gene on chromosome 11.

FTH1 is classified as a druggable target with score 52.2.

Diagnosis

Genetic testing for FTH1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 5.

2 publications have been identified in PubMed for hemochromatosis type 5. Research spans Basic Science / Preclinical (100%).

Recent Publications

Helmuth TB (2026). [PMID: 41772831](https://pubmed.ncbi.nlm.nih.gov/41772831/). *J Neurochem*. [Basic Science / Preclinical]
Prasadam I (2025). [PMID: 39531048](https://pubmed.ncbi.nlm.nih.gov/39531048/). *J Mol Med (Berl)*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615517

Orphanet

European rare disease database

Orphanet:247790 Orphanet:447792

GARD

Genetic and Rare Diseases Info Center

GARD:13472

Questions for Your Care Team

→Should I pursue genetic testing for FTH1, 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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hemochromatosis type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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