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ORPHA:90290

CREST syndrome

low confidenceSubtype of disorder

Also known as: Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome

Publications

181,559

Trials

2

Interventional, condition-specific

Researchers

1,027

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Orphanet entry

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    181,559 matched papers (101,000 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

181,559

181,559 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.

181,559 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).

101,000 in the last 10 years · low confidence

Phrase hits: 1,807 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Abe 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
  2. 02
    Abe N2 papers · 2024

    Department of Gastroenterology, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.

    Papers in Europe PMC
  3. 03
    Alhouri A2 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Qatif Central Hospital, AlQatif, Saudi Arabia.

    Papers in Europe PMC
  4. 04
    Baigenzhin A2 papers · 2026

    JSC National Scientific Medical Center, 42 Abylai Khan Ave., Astana 010009, Kazakhstan.

    Papers in Europe PMC
  5. 05
    Balan G2 papers · 2024

    Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.

    Papers in Europe PMC
  6. 06
    Becker MO2 papers · 2019

    Klinik für Rheumatologie, Universitätsspital Zürich, Gloriastrasse 25, 8091, Zürich, Schweiz. mikeoliver.becker@usz.ch.

    Papers in Europe PMC
  7. 07
    Bobeica C2 papers · 2024

    Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, Galați, 800008, Romania.

    Papers in Europe PMC
  8. 08
    Boltanova A2 papers · 2026

    JSC National Scientific Medical Center, 42 Abylai Khan Ave., Astana 010009, Kazakhstan.

    Papers in Europe PMC
  9. 09
    Craescu 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
  10. 10
    Debita 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Open the complete matched search on ClinicalTrials.gov

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30

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 (9)

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 CREST 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.

("CREST syndrome" OR "Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome") OR ("CREST" OR "CREST-related")

Run this search on Europe PMC

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