ORPHA:648562
Ferroportin disease
Publications
349
Trials
1
Interventional, condition-specific
Researchers
804
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
349 matched papers (174 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
349
349 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=3967) is 59.
349 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).
174 in the last 10 years · low confidence
Phrase hits: 349 · MeSH hits: 0
Who's working on it?
804
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.
- 01Pietrangelo A18 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 - 02Brissot 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 - 03Wallace DF11 papers · 2024
Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Papers in Europe PMC - 04Hayashi H10 papers · 2024
Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
Papers in Europe PMC - 05Subramaniam VN10 papers · 2024
Membrane Transport Laboratory, the Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Papers in Europe PMC - 06Tatsumi Y10 papers · 2024
Department of Medicine, Aichi-Gakuin University, School of Pharmacy, Nagoya, Japan.
Papers in Europe PMC - 07Zoller H10 papers · 2026
Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Innsbruck, Austria. heinz.zoller@uibk.ac.at
Papers in Europe PMC - 08Corradini E9 papers · 2026
Center for Hemochromatosis, Department of Internal Medicine, University of Modena Policlinico Via del Pozzo 71 41100 Modena, Italy.
Papers in Europe PMC - 09Piperno 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 - 10Bardou-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
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
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)
- isrctn·ISRCTN88307799·No longer recruiting·A non-blinded, Phase I study in healthy male volunteers to investigate how the investigational drug vamifeport is processed (taken up, converted, excreted) by the human body
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN37721571·No longer recruiting·Wnt signalling in colon cancer
skipped — LLM skipped (--skip-llm)
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 Ferroportin disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Ferroportin disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ferroportin disease"
Interventional trials matched via: phrase (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; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- "Ferroportin disease" also appears on ORPHA:647834
Ingested 2026-07-27T19:49:51.172Z