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ORPHA:209981

IRIDA syndrome

low confidenceDisorder

Also known as: Iron-refractory iron deficiency anemia

Publications

520

Trials

5

Interventional, condition-specific

Researchers

1,049

Distinct authors in sample

Gene link

TMPRSS6

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

iron-refractory iron deficiency anaemia · iron-refractory iron deficiency anemia

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 — TMPRSS6

  2. LiteraturePresent

    520 matched papers (306 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

    5 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 (TMPRSS6).

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?

520

520 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=5449) is 41.

520 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).

306 in the last 10 years · low confidence

Phrase hits: 520 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

1,049

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
    Silvestri L10 papers · 2025

    Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan.

    Papers in Europe PMC
  2. 02
    Swinkels DW8 papers · 2026

    Radboudumc Expert Center for Iron Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Nai A7 papers · 2025

    Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan.

    Papers in Europe PMC
  4. 04
    Camaschella C6 papers · 2022

    Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan camaschella.clara@hsr.it.

    Papers in Europe PMC
  5. 05
    Donker AE6 papers · 2026

    Radboudumc Expert Center for Iron Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Ganz T5 papers · 2026

    Department of Medicine and Pathology, David Geffen School of Medicine, University of California.

    Papers in Europe PMC
  7. 07
    Muckenthaler MU5 papers · 2023

    Department of Pediatric Hematology, Oncology and Immunology - University of Heidelberg, Germany.

    Papers in Europe PMC
  8. 08
    Nemeth E5 papers · 2025

    Department of Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA; and.

    Papers in Europe PMC
  9. 09
    Pagani A5 papers · 2023

    Vita Salute University and San Raffaele Scientific Institute, Milano, Italy.

    Papers in Europe PMC
  10. 10
    Iolascon A4 papers · 2023

    Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy; and.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 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.

"IRIDA syndrome" OR "Iron-refractory iron deficiency anemia" OR "iron-refractory iron deficiency anaemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Iron-Refractory Iron Deficiency Anemia

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

"IRIDA syndrome" OR "Iron-refractory iron deficiency anemia" OR "iron-refractory iron deficiency anaemia" OR "TMPRSS6"

Recall-expansion terms: TMPRSS6

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

Study-type breakdown: 5 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, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (520) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:28:21.962Z