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ORPHA:1450

Ring chromosome 8 syndrome

low confidenceDisorder

Also known as: Ring 8 · Ring chromosome 8 · r(8) syndrome

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

Publications

1,741

Trials

0

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly comprising variable parts of chromosome 8. The of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.

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)

ring chromosome 8 · rose cluster 8 · supernumerary ring/marker 8

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

    1,741 matched papers (935 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Abnormality of the ureter; Hydronephrosis; Sloping forehead) 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)

14

Associated phenotypes · MONDO:0015443

  • Abnormality of the ureter
  • Hydronephrosis
  • Sloping forehead
  • Deviation of finger
  • Abnormal palate morphology

Showing 5 of 14 — 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?

1,741

1,741 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.

1,741 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).

935 in the last 10 years · low confidence

Phrase hits: 1,741 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,180

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
    Baumbach J12 papers · 2026

    Institute for Computational Systems Biology, University of Hamburg, Albert-Einstein-Ring 8-10, 22761 Hamburg, Germany.

    Papers in Europe PMC
  2. 02
    Rarey M11 papers · 2026

    ZBH - Center for Bioinformatics, University of Hamburg, Albert Einstein Ring 8-10, 22761 Hamburg, Germany.

    Papers in Europe PMC
  3. 03
    Tsoy O7 papers · 2026

    Institute for Computational Systems Biology, University of Hamburg, Albert-Einstein-Ring 8-10, 22761 Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Liu Z6 papers · 2026

    Physical Intelligence Department, Max Planck Institute for Intelligent Systems, Stuttgart, Germany.

    Papers in Europe PMC
  5. 05
    Zhang J6 papers · 2025

    School of Mechanical and Energy Engineering, Shaoyang University, Shaoyang, 422000, China.

    Papers in Europe PMC
  6. 06
    Li J5 papers · 2025

    Department of Burn, Plastic and Wound Repair Surgery, The Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.

    Papers in Europe PMC
  7. 07
    Zhang X5 papers · 2026

    University of Chinese Academy of Sciences, Shanghai 100049, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Chen C4 papers · 2025

    College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, Shandong, China.

    Papers in Europe PMC
  9. 09
    Chen X4 papers · 2026

    Department of Mechanical and Aerospace Engineering, The Hong Kong University of Science and Technology, Kowloon, Hong Kong.

    Papers in Europe PMC
  10. 10
    Dong X4 papers · 2025

    Center for High Pressure Science and Technology Advanced Research, Beijing, 100093, China.

    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 8 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 8 syndrome" OR "Ring 8" OR "Ring chromosome 8" OR "r(8) syndrome" OR "rose cluster 8" OR "supernumerary ring/marker 8"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chromosome 8 ring

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

"Ring chromosome 8 syndrome" OR "Ring 8" OR "Ring chromosome 8" OR "r(8) syndrome" OR "rose cluster 8" OR "supernumerary ring/marker 8" OR "Chromosome 8 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 (1741) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:05:06.530Z