ORPHA:90290
CREST syndrome
Also known as: Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome
Publications
1,807
Trials
2
Interventional, condition-specific
Researchers
1,027
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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
1,807 matched papers (579 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
2 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?
1,807
1,807 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.
1,807 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).
579 in the last 10 years · low confidence
Phrase hits: 1,807 · MeSH hits: 0
Who's working on it?
1,027
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.
- 01Abe K3 papers · 2024
Department of Gastroenterology, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan. k-abe@fmu.ac.jp.
Papers in Europe PMC - 02Abe N2 papers · 2024
Department of Gastroenterology, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.
Papers in Europe PMC - 03Alhouri A2 papers · 2026
Division of Rheumatology, Department of Internal Medicine, Qatif Central Hospital, AlQatif, Saudi Arabia.
Papers in Europe PMC - 04Baigenzhin A2 papers · 2026
JSC National Scientific Medical Center, 42 Abylai Khan Ave., Astana 010009, Kazakhstan.
Papers in Europe PMC - 05Balan G2 papers · 2024
Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.
Papers in Europe PMC - 06Becker MO2 papers · 2019
Klinik für Rheumatologie, Universitätsspital Zürich, Gloriastrasse 25, 8091, Zürich, Schweiz. mikeoliver.becker@usz.ch.
Papers in Europe PMC - 07Bobeica C2 papers · 2024
Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.
Papers in Europe PMC - 08Boltanova A2 papers · 2026
JSC National Scientific Medical Center, 42 Abylai Khan Ave., Astana 010009, Kazakhstan.
Papers in Europe PMC - 09Craescu M2 papers · 2024
Department of Morphological and Functional Sciences, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.
Papers in Europe PMC - 10Debita M2 papers · 2024
Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"CREST syndrome" OR "Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CREST syndrome" OR "Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome"
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: 2 interventional · 1 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T03:43:19.736Z