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ORPHA:1437

Ring chromosome 1 syndrome

low confidenceDisorder

Also known as: Ring 1 · Ring chromosome 1 · r(1) syndrome

Publications

6,322

Trials

0

Interventional, condition-specific

Researchers

1,201

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Ring chromosome 1 syndrome is an anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, , , microcephaly, and facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

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 1

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

    6,322 matched papers (3,325 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Ptosis; Feeding difficulties in infancy; Wide nasal bridge) 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)

13

Associated phenotypes · MONDO:0015430

  • Ptosis
  • Feeding difficulties in infancy
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Downturned corners of mouth

Showing 5 of 13 — 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?

6,322

6,322 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,322 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).

3,325 in the last 10 years · low confidence

Phrase hits: 6,322 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,201

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
    Bau M9 papers · 2026

    Critical Metals for Enabling Technologies - CritMET, School of Science, Constructor University, Campus Ring 1, 28759, Bremen, Germany.

    Papers in Europe PMC
  2. 02
    Kortz U8 papers · 2026

    School of Science, Constructor University, Campus Ring 1, 28759, Bremen, Germany.

    Papers in Europe PMC
  3. 03
    Zhang K7 papers · 2026

    Critical Metals for Enabling Technologies, School of Science, Constructor University, Campus Ring 1, 28759 Bremen, Germany.

    Papers in Europe PMC
  4. 04
    Kuhnert N5 papers · 2026

    School of Science, Constructor University, Campus Ring 1, 28759 Bremen, Germany. Electronic address: nkuhnert@constructor.university.

    Papers in Europe PMC
  5. 05
    Wang Z5 papers · 2026

    Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou 310024, China.

    Papers in Europe PMC
  6. 06
    Zhang Y5 papers · 2026

    Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou 310024, China.

    Papers in Europe PMC
  7. 07
    Kleinekathöfer U4 papers · 2026

    School of Science, Constructor University, Campus Ring 1, Bremen 28759, Germany.

    Papers in Europe PMC
  8. 08
    Li S4 papers · 2026

    State Key Laboratory of Chemical Reaction Dynamics and Department of Chemical Physics, University of Science and Technology of China, Hefei, China.

    Papers in Europe PMC
  9. 09
    Li Y4 papers · 2026

    Department of Veterinary Medicine, Zhejiang University College of Animal Sciences, Hangzhou 310058, China.

    Papers in Europe PMC
  10. 10
    Wang J4 papers · 2025

    Department of Ophthalmology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui, 233004, China. wangjianfeng1969@163.com.

    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 11 September 2026 · last trial check 11 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 40 · 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 (40)

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 1 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 1 syndrome" OR "Ring 1" OR "Ring chromosome 1" OR "r(1) syndrome" OR "Ring chromosome type 1"

Run this search on Europe PMC

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

"Ring chromosome 1 syndrome" OR "Ring 1" OR "Ring chromosome 1" OR "r(1) syndrome" OR "Ring chromosome type 1"

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

Query health: ok — strategies attempted: phrase; 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 (6322) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:20:22.355Z