RARE DISEASERESEARCH ATLAS

ORPHA:300576

Oligodontia-cancer predisposition syndrome

high confidence

Also known as: Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Orphanet entry

Is anyone studying this?

43

43 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.

43 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

35 in the last 10 years · high confidence · 47.8th percentile (publications denominator)

Is a treatment being tested?

0

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 26 July 2026

No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.

high confidence · 29.6th percentile (trials denominator)

Do we know what causes it?

Yes — we know a specific gene responsible (AXIN2).

GenCC classification: Definitive.

Who's working on it?

350

Distinct author names in 43 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
    Karstensen JG3 papers · 2026

    Faculty of Health and Medical Sciences, University of Copenhagen, København, Denmark.

    Papers in Europe PMC
  2. 02
    Letra A3 papers · 2018

    Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, TX, USA. ariadne.m.letra@uth.tmc.edu.

    Papers in Europe PMC
  3. 03
    Liu Y3 papers · 2025

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  4. 04
    Aceves-Ewing NM2 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.

    Papers in Europe PMC
  5. 05
    Bellen HJ2 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  6. 06
    Burrage LC2 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: burrage@bcm.edu.

    Papers in Europe PMC
  7. 07
    Byrjalsen A2 papers · 2023

    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

    Papers in Europe PMC
  8. 08
    Chen G2 papers · 2023

    College of Life Science and Medicine, Zhejiang Provincial Key Laboratory of Silkworm Bioreactor and Biomedicine, Zhejiang Sci-Tech University, Hangzhou, Zhejiang 310018, China.

    Papers in Europe PMC
  9. 09
    Christiansen AE2 papers · 2026

    Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Day-Salvatore DL2 papers · 2026

    Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ, USA.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment 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 above — 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 2026-07-26

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 below but are not added to the query string.

"Oligodontia-cancer predisposition syndrome" OR "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" OR "ODCRCS" OR "oligodontia-colorectal cancer syndrome" OR "tooth agenesis-colorectal cancer syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Oligodontia-Colorectal Cancer Syndrome

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

"Oligodontia-cancer predisposition syndrome" OR "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" OR "ODCRCS" OR "oligodontia-colorectal cancer syndrome" OR "tooth agenesis-colorectal cancer syndrome" OR "AXIN2"

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

Cross-references (from Mondo): MESH:C563898 OMIM:608615 UMLS:C1837750

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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

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