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ORPHA:647834

SLC40A1-related hemochromatosis

medium confidenceDisorder

Publications

353

76.7th percentile

Trials

1

Interventional, condition-specific

Researchers

811

Distinct authors in sample

Gene link

SLC40A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

Ferroportin Disease · HFE4 · SLC40A1 hereditary hemochromatosis · ferroportin disease · hereditary hemochromatosis caused by mutation in SLC40A1

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SLC40A1

  2. LiteraturePresent

    353 matched papers (178 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SLC40A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

353

353 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

353 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

178 in the last 10 years · medium confidence · 76.7th percentile (publications denominator)

Phrase hits: 350 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

811

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Pietrangelo A17 papers · 2026

    Division of Internal Medicine 2 and Center for Hemochromatosis, "Mario Coppo" Liver Research Center, University Hospital of Modena, Modena, Italy. antonello.pietrangelo@unimore.it

    Papers in Europe PMC
  2. 02
    Brissot P13 papers · 2022

    Liver Disease Department, National Center of Reference for Rare Iron Overload Diseases of Genetic Origin, INSERM, UMR 991, Liver Metabolisms and Cancer, University of Rennes 1, CHU Pontchaillou, Rennes, France. pierre.brissot@univ-rennes1.fr

    Papers in Europe PMC
  3. 03
    Wallace DF11 papers · 2024

    Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Queensland, Australia

    Papers in Europe PMC
  4. 04
    Hayashi H10 papers · 2024

    Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.

    Papers in Europe PMC
  5. 05
    Subramaniam VN10 papers · 2024

    Membrane Transport Laboratory, the Queensland Institute of Medical Research, Brisbane, Queensland, Australia

    Papers in Europe PMC
  6. 06
    Tatsumi Y10 papers · 2024

    Department of Medicine, Aichi-Gakuin University, School of Pharmacy, Nagoya, Japan.

    Papers in Europe PMC
  7. 07
    Zoller H10 papers · 2026

    Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Innsbruck, Austria. heinz.zoller@uibk.ac.at

    Papers in Europe PMC
  8. 08
    Piperno A9 papers · 2026

    Dipartimento di Scienze della Salute Università degli Studi di Milano-Bicocca, AO San Gerardo, Via Pergolesi 33, 20900 Monza, Italy.

    Papers in Europe PMC
  9. 09
    Bardou-Jacquet E8 papers · 2026

    University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University of Rennes1, Inserm UMR 991, 35000 Rennes, France; University Hospital of Rennes, Liver disease department, Rennes, France. Electronic address: edouard.bardou-jacquet@chu-rennes.fr.

    Papers in Europe PMC
  10. 10
    Corradini E8 papers · 2026

    Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia; Internal Medicine and Centre for Hemochromatosis and Heredometabolic Liver Diseases, ERN -EuroBloodNet Center, Azienda Ospedaliero-Universitaria di Modena, Policlinico, Modena, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"SLC40A1-related hemochromatosis" OR "Ferroportin Disease" OR "SLC40A1 hereditary hemochromatosis" OR "hereditary hemochromatosis caused by mutation in SLC40A1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemochromatosis, type 4

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"SLC40A1-related hemochromatosis" OR "Ferroportin Disease" OR "SLC40A1 hereditary hemochromatosis" OR "hereditary hemochromatosis caused by mutation in SLC40A1" OR "Hemochromatosis, type 4" OR "SLC40A1"

Recall-expansion terms: SLC40A1

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HFE4

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Ferroportin Disease" also appears on ORPHA:648562

Ingested 2026-07-27T19:49:32.085Z