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ORPHA:353298

Roifman syndrome

low confidenceDisorder

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

Publications

329

Trials

1

Interventional, condition-specific

Researchers

1,058

Distinct authors in sample

Gene link

RNU4ATAC

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — RNU4ATAC

  2. LiteraturePresent

    329 matched papers (258 in last 10 years) Source

  3. Phenotype characterisedPresent

    78 HPO annotations (e.g. Hypogonadotropic hypogonadism; Thin upper lip vermilion; Long philtrum) 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

    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)

78

Associated phenotypes · MONDO:0014722

  • Hypogonadotropic hypogonadism
  • Thin upper lip vermilion
  • Long philtrum
  • Recurrent otitis media
  • Retinal dystrophy

Showing 5 of 78 — 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?

329

329 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.

329 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).

258 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 11 September 2026 · last trial check 28 July 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.

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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Roifman 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.

("Roifman syndrome" OR "Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" OR "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency") OR (MESH:"Roifman syndrome") OR ("RNU4ATAC" OR "RNU4ATAC syndrome" OR "RNU4ATAC-related")

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"

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; 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