ORPHA:1440
Ring chromosome 14 syndrome
Also known as: Ring 14 · Ring chromosome 14
Publications
1,351
Trials
1
Interventional, condition-specific
Researchers
1,226
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, , and features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014708
- MeSH:C535487
- OMIM:616606
- UMLS:C2930916
Additional Mondo synonyms (3)
Chromosome 14 Ring · Ring chromosome type 14 · ring chromosome 14 syndrome, isolated cases
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,351 matched papers (645 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,351
1,351 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=5449) is 41.
1,351 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
645 in the last 10 years · low confidence
Phrase hits: 1,351 · MeSH hits: 0
Who's working on it?
1,226
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.
- 01Gobbi G6 papers · 2021
Residential Center for Rehabilitation Luce Sul Mare, Rimini, Italy.
Papers in Europe PMC - 02Mösges R6 papers · 2025
ClinCompetence Cologne GmbH, Theodor-Heuss-Ring 14, 50668, Cologne, Germany. ralph@moesges.de.
Papers in Europe PMC - 03Neri G6 papers · 2021
Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
Papers in Europe PMC - 04Álvarez F5 papers · 2026Papers in Europe PMC
- 05Arena M5 papers · 2026Papers in Europe PMC
- 06Auteri D5 papers · 2026Papers in Europe PMC
- 07Binaglia M5 papers · 2026Papers in Europe PMC
- 08Castoldi AF5 papers · 2026Papers in Europe PMC
- 09Chiusolo A5 papers · 2026Papers in Europe PMC
- 10Colagiorgi A5 papers · 2026Papers 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.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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 14 syndrome" OR "Ring 14" OR "Ring chromosome 14" OR "Chromosome 14 Ring" OR "Ring chromosome type 14" OR "ring chromosome 14 syndrome, isolated cases"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 14 syndrome" OR "Ring 14" OR "Ring chromosome 14" OR "Chromosome 14 Ring" OR "Ring chromosome type 14" OR "ring chromosome 14 syndrome, isolated cases"
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.
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 (1351) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T17:21:38.743Z