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ORPHA:353298

Roifman syndrome

low confidenceDisorder

Also known as: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Publications

126

Trials

1

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

RNU4ATAC

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic immuno-osseous associated with pre- and post-natal growth retardation, retinopathy, microcephaly, and features.

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 (3)

RFMN · spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency · spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

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 — RNU4ATAC

  2. LiteraturePresent

    126 matched papers (107 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

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (RNU4ATAC).

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?

126

126 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=5449) is 41.

126 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).

107 in the last 10 years · low confidence

Phrase hits: 126 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,058

Distinct author names in 126 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
    Kanadia RN11 papers · 2024

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT 06269, USA.

    Papers in Europe PMC
  2. 02
    Olthof AM8 papers · 2024

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT 06269, USA.

    Papers in Europe PMC
  3. 03
    Freson K7 papers · 2024

    Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  4. 04
    Roifman CM7 papers · 2026

    Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.

    Papers in Europe PMC
  5. 05
    Campeau PM6 papers · 2026

    Medical Genetics Service, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada. p.campeau@umontreal.ca.

    Papers in Europe PMC
  6. 06
    Frilander MJ6 papers · 2026

    Institute of Biotechnology, FI-00014 University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  7. 07
    Bernstein JA5 papers · 2026

    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

    Papers in Europe PMC
  8. 08
    Edery P5 papers · 2024

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  9. 09
    Mazoyer S5 papers · 2024

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  10. 10
    O'Donnell-Luria A5 papers · 2026

    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

    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; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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.

"Roifman syndrome" OR "Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" OR "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Roifman syndrome

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

"Roifman syndrome" OR "Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" OR "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" OR "RNU4ATAC"

Recall-expansion terms: RNU4ATAC

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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RFMN

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T14:25:17.649Z