Evidence map›Paper›PMID 31505869›Full record

ReviewPharmaceuticals (Basel, Switzerland)2019

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

L Tom Vlasveld, Roel Janssen, Edouard Bardou-Jacquet, Hanka Venselaar, Houda Hamdi-Roze, Hal Drakesmith, Dorine W Swinkels

Open access · goldAbstract readReview
In one paragraph

Review in Pharmaceuticals (Basel, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
4.7field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 57 citations in OpenAlex.

  1. Review
  2. Comparing the types of haemochromatosis- from genetics to clinics.European journal of human genetics : EJHG · 2026
    Review
  3. Article
  4. Review
  5. The different affinity of the two metal-binding sites of human ferroportin drives outward directionality of transport.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2025
    Article
  6. Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  7. Review
  8. Review
  9. Review
  10. Review
  11. Review
  12. Article
  13. Article
  14. A 70-year-old Woman with Asymptomatic Ferroportin Disease.Internal medicine (Tokyo, Japan) · 2024
    Article
  15. Article
  16. Review
  17. Article
  18. Review
  19. Mechanism of CaeLife · 2023
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

L Tom VlasveldDepartment of Internal Medicine, Haaglanden MC-Bronovo, 2597AX The Hague, The Netherlands.
Roel JanssenDepartment of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0001-8538-0708
Edouard Bardou-JacquetLiver Diseases Department, French Reference Centre for Rare Iron Overload Diseases of Genetic Origin, University Hospital Pontchaillou, 35033 Rennes, France.ORCID 0000-0002-0784-0710
Hanka VenselaarCentre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud, University Medical Center, P.O. Box 9191, 6500 HB Nijmegen, The Netherlands.
Houda Hamdi-RozeMolecular Genetics Department, French Reference Centre for Rare Iron Overload Diseases of Genetic Origin, University Hospital Pontchaillou, 35033 Rennes, France.
Hal DrakesmithMRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX39DS, UK.
Dorine W SwinkelsDepartment of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. dorine.swinkels@radboudumc.nl.ORCID 0000-0002-1040-9446
Radboud University Nijmegen · NLBronovo Hospital · NLUniversity of Oxford · GB

Funding

Medical Research Council MC_UU_00008/10Medical Research Council MC_UU_12010/10
6 · The paper itself

Abstract

Iron overloading disorders linked to mutations in ferroportin have diverse phenotypes in vivo, and the effects of mutations on ferroportin in vitro range from loss of function (LOF) to gain of function (GOF) with hepcidin resistance. We reviewed 359 patients with 60 ferroportin variants. Overall, macrophage iron overload and low/normal transferrin saturation (TSAT) segregated with mutations that caused LOF, while GOF mutations were linked to high TSAT and parenchymal iron accumulation. However, the pathogenicity of individual variants is difficult to establish due to the lack of sufficiently reported data, large inter-assay variability of functional studies, and the uncertainty associated with the performance of available in silico prediction models. Since the phenotypes of hepcidin-resistant GOF variants are indistinguishable from the other types of hereditary hemochromatosis (HH), these variants may be categorized as ferroportin-associated HH, while the entity ferroportin disease may be confined to patients with LOF variants. To further improve the management of ferroportin disease, we advocate for a global registry, with standardized clinical analysis and validation of the functional tests preferably performed in human-derived enterocytic and macrophagic cell lines. Moreover, studies are warranted to unravel the definite structure of ferroportin and the indispensable residues that are essential for functionality.

Indexed as

ferritinferroportinhemochromatosisiron overloadnon-HFESLC40A1

Identifiers

PMID31505869
PMCPMC6789780
OpenAlexW2972637634

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.