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ORPHA:290

Congenital rubella syndrome

low confidenceDisorder

Also known as: CRS · Fetal rubella syndrome · Mother-to-child transmission of rubella syndrome

Publications

4,925

Trials

1

Interventional, condition-specific

Researchers

1,228

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

Rubella, Congenital · congenital rubella · congenital rubella syndrome · fetal rubella syndrome · foetal rubella syndrome · mother-to-child transmission of rubella syndrome · rubella congenital

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,925 matched papers (1,669 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Abnormal cranial suture/fontanelle morphology; Microcephaly; Jaundice) 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

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0017361

  • Abnormal cranial suture/fontanelle morphology
  • Microcephaly
  • Jaundice
  • Hypotonia
  • Thrombocytopenia

Showing 5 of 31 — 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?

4,925

4,925 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.

4,925 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).

1,669 in the last 10 years · low confidence

Phrase hits: 4,925 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,228

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
    Vynnycky E8 papers · 2026

    Department of Infectious Disease Epidemiology, Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, UK; TB Modelling Group, Centre for Mathematical Modelling of Infectious Diseases, London School of Hygiene & Tropical Medicine, London, UK; Department of Statistics Modelling and Economics, UK Health Security Agency, London, UK.

    Papers in Europe PMC
  2. 02
    Singh MP7 papers · 2026

    Advanced Eye Centre & Department of Virology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  3. 03
    Tripathi S7 papers · 2025

    Professor, Department of Pediatrics, King George's Medical University, Lucknow, India.

    Papers in Europe PMC
  4. 04
    Awasthi S6 papers · 2025

    Former Head, Department of Pediatrics, King George's Medical University, Lucknow, India.

    Papers in Europe PMC
  5. 05
    Jain A6 papers · 2025

    Head, Department of Microbiology, King George's Medical University, Lucknow, India.

    Papers in Europe PMC
  6. 06
    Jain M6 papers · 2024

    Mahatma Gandhi Institute of Medical Sciences, Sewagram, India.

    Papers in Europe PMC
  7. 07
    Shanmugasundaram D6 papers · 2024

    ICMR-National Institute of Epidemiology, Chennai, India.

    Papers in Europe PMC
  8. 08
    Singh K6 papers · 2024

    All India Institute of Medical Sciences, Jodhpur, India.

    Papers in Europe PMC
  9. 09
    Viswanathan R6 papers · 2024

    ICMR-National Institute of Virology, Pune, India.

    Papers in Europe PMC
  10. 10
    Biswas D5 papers · 2024

    All India Institute of Medical Sciences, Bhopal, India.

    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; none in our sample are currently recruiting. 66 trials are registered for rubella, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: rubella

66

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Congenital rubella 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.

"Congenital rubella syndrome" OR "Fetal rubella syndrome" OR "Mother-to-child transmission of rubella syndrome" OR "Mother-to-child transmission of the rubella syndrome" OR "Rubella, Congenital" OR "congenital rubella" OR "foetal rubella syndrome" OR "rubella congenital"

Run this search on Europe PMC

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

"Congenital rubella syndrome" OR "Fetal rubella syndrome" OR "Mother-to-child transmission of rubella syndrome" OR "Mother-to-child transmission of the rubella syndrome" OR "Rubella, Congenital" OR "congenital rubella" OR "foetal rubella syndrome" OR "rubella congenital"

Interventional trials matched via: phrase (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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"rubella"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CRS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4925) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:17:21.405Z