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ORPHA:209981

IRIDA syndrome

low confidenceDisorder

Also known as: Iron-refractory iron deficiency anemia

Publications

2,315

Trials

2

Interventional, condition-specific

Researchers

1,049

Distinct authors in sample

Gene link

TMPRSS6

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TMPRSS6

  2. LiteraturePresent

    2,315 matched papers (1,590 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Anisocytosis; Hypochromic microcytic anemia; Poikilocytosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    2 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)

15

Associated phenotypes · MONDO:0008788

  • Anisocytosis
  • Hypochromic microcytic anemia
  • Poikilocytosis
  • Elevated circulating hepcidin concentration
  • Iron deficiency anemia

Showing 5 of 15 — open Monarch for the full list.

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?

2,315

2,315 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.

2,315 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).

1,590 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?

2

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 IRIDA syndrome — 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.

("IRIDA syndrome" OR "Iron-refractory iron deficiency anemia" OR "iron-refractory iron deficiency anaemia") OR (MESH:"Iron-Refractory Iron Deficiency Anemia") OR ("TMPRSS6" OR "TMPRSS6 syndrome" OR "TMPRSS6-related" OR "IRIDA" OR "IRIDA-related")

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"

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: 2 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

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 (2315) 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