ORPHA:251043
Ring chromosome 5 syndrome
Also known as: Ring 5 · Ring chromosome 5
Publications
3,128
Trials
0
Interventional, condition-specific
Researchers
1,276
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a mewing cry, severe and , short stature, , features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016654
- UMLS:C4050064
- NCIT:C121984
Additional Mondo synonyms (2)
Ring chromosome type 5 · rose cluster 5
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,128 matched papers (1,805 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 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)
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?
3,128
3,128 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.
3,128 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).
1,805 in the last 10 years · low confidence
Phrase hits: 3,128 · MeSH hits: 0
Who's working on it?
1,276
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.
- 01Angenent LT11 papers · 2026
Environmental Biotechnology Group, Department of Geosciences, University of Tübingen, Schnarrenbergstraße 94-96, 72076 Tübingen, Germany; Cluster of Excellence - Controlling Microbes to Fight Infections, University of Tübingen, Germany; AG Angenent, Max Planck Institute for Biology Tübingen, Max Planck Ring 5, 72076 Tübingen, Germany; Department of Biological and Chemical Engineering, Aarhus University, Universitetsbyen 36, 8000 Aarhus C, Denmark; The Novo Nordisk Foundation CO(2) Research Center (CORC), Aarhus University, Gustav Wieds Vej 10, 8000 Aarhus C, Denmark. Electronic address: l.angenent@uni-tuebingen.de.
Papers in Europe PMC - 02Coelho SM8 papers · 2026
Department of Algal Development and Evolution, , Max-Planck-Ring 5 , ,
Papers in Europe PMC - 03Li Y4 papers · 2025
Department of Radiology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Tongji Shanxi Hospital, Taiyuan, Shanxi, 030032, China.
Papers in Europe PMC - 04Molitor B4 papers · 2026
Environmental Biotechnology Group, Department of Geosciences, University of Tübingen, Schnarrenbergstraße 94-96, 72076 Tübingen, Germany; Cluster of Excellence - Controlling Microbes to Fight Infections, University of Tübingen, Germany.
Papers in Europe PMC - 05Barrera-Redondo J3 papers · 2025
Department of Algal Development and Evolution, Max Planck Institute for Biology, Max-Planck-Ring 5, 72076, Tübingen, Germany. josue.barrera@tuebingen.mpg.de.
Papers in Europe PMC - 06Boscia F3 papers · 2025
Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro", 70121 Bari, Italy.
Papers in Europe PMC - 07Boscia G3 papers · 2025
Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro", 70121 Bari, Italy.
Papers in Europe PMC - 08Chen H3 papers · 2026
Max Planck Institute for Developmental Biology, Department of Cell Biology, Max-Planck-Ring 5, 72076 Tübingen, Germany.
Papers in Europe PMC - 09Chen Y3 papers · 2026
Department of Ophthalmology, Second Affiliated Hospital of Soochow University, China.
Papers in Europe PMC - 10Haas FB3 papers · 2026
Department of Algal Development and Evolution, , Max-Planck-Ring 5 , ,
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
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 5 syndrome" OR "Ring 5" OR "Ring chromosome 5" OR "Ring chromosome type 5" OR "rose cluster 5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 5 syndrome" OR "Ring 5" OR "Ring chromosome 5" OR "Ring chromosome type 5" OR "rose cluster 5"
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 (3128) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T10:41:56.640Z