RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:647834

SLC40A1-related hemochromatosis

low confidenceDisorder

Publications

3,736

Trials

1

Interventional, condition-specific

Researchers

811

Distinct authors in sample

Gene link

SLC40A1

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC40A1

  2. LiteraturePresent

    3,736 matched papers (2,983 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Hyperpigmentation of the skin; Cardiomyopathy; Osteoarthritis) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

17

Associated phenotypes · MONDO:0011631

  • Hyperpigmentation of the skin
  • Cardiomyopathy
  • Osteoarthritis
  • Glucose intolerance
  • Hepatic steatosis

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,736

3,736 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,736 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,983 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for SLC40A1-related hemochromatosis — check Associations / patient organisations on that page.

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") OR (MESH:"Hemochromatosis, type 4") OR ("SLC40A1" OR "SLC40A1 syndrome" OR "SLC40A1-related")

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"

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; 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
  • Publication count (3736) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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