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ORPHA:1443

Ring chromosome 19 syndrome

low confidenceDisorder

Also known as: Ring 19 · Ring chromosome 19

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,412

Trials

0

Interventional, condition-specific

Researchers

707

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable that may range from normal to patients with profound , , learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.

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 (1)

Ring chromosome type 19

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,412 matched papers (739 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Microcephaly; Micrognathia; Posteriorly rotated ears) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

16

Associated phenotypes · MONDO:0015435

  • Microcephaly
  • Micrognathia
  • Posteriorly rotated ears
  • Cutis laxa
  • Deep philtrum

Showing 5 of 16 — 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 2026-07-27

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?

1,412

1,412 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.

1,412 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).

739 in the last 10 years · low confidence

Phrase hits: 1,412 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

707

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wenger OS54 papers · 2026

    Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.

    Papers in Europe PMC
  2. 02
    Mayor M25 papers · 2026

    Institute of Nanotechnology, Karlsruhe Institute of Technology, P.O. Box 3640, 76021 Karlsruhe, Germany.

    Papers in Europe PMC
  3. 03
    Sparr C23 papers · 2026

    Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056, Basel, Switzerland.

    Papers in Europe PMC
  4. 04
    Häussinger D21 papers · 2026

    Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.

    Papers in Europe PMC
  5. 05
    Baudoin O18 papers · 2025

    University of Basel , Department of Chemistry , St. Johanns-Ring 19 , 4056 Basel , Switzerland.

    Papers in Europe PMC
  6. 06
    Prescimone A18 papers · 2026

    Department of Chemistry, University of Basel, BPR 1096, Mattenstrasse 24a, 4058 Basel, Switzerland.

    Papers in Europe PMC
  7. 07
    Wellauer J9 papers · 2026

    Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.

    Papers in Europe PMC
  8. 08
    Gillingham D8 papers · 2023

    Department of Chemistry, University of Basel St. Johanns-Ring 19, CH-4056 Basel;, Email: dennis.gillingham@unibas.ch.

    Papers in Europe PMC
  9. 09
    van der Zant HSJ7 papers · 2025

    Kavli Institute of Nanoscience, Delft University of Technology Lorentzweg 1 Delft 2628 CJ The Netherlands h.s.j.vanderzant@tudelft.nl.

    Papers in Europe PMC
  10. 10
    Fuhr O6 papers · 2025

    Institute for Nanotechnology (INT), Karlsruhe Institute of Technology (KIT), P.O. Box 3640, 76021 Karlsruhe, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 40 · fetched 2026-07-27

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 Ring chromosome 19 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.

"Ring chromosome 19 syndrome" OR "Ring 19" OR "Ring chromosome 19" OR "Ring chromosome type 19"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chromosome 19 ring

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

"Ring chromosome 19 syndrome" OR "Ring 19" OR "Ring chromosome 19" OR "Ring chromosome type 19" OR "Chromosome 19 ring"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1412) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:11:30.744Z