RARE DISEASERESEARCH ATLAS
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ORPHA:88661

Amelogenesis imperfecta

low confidenceDisorder

Publications

3,311

Trials

3

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

COL17A1, WDR72

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — COL17A1, WDR72

  2. LiteraturePresent

    3,311 matched papers (1,780 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 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?

Yes — we know a specific gene responsible (COL17A1, WDR72).

GenCC classification: Definitive.

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?

3,311

3,311 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.

3,311 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).

1,780 in the last 10 years · low confidence

Phrase hits: 3,311 · MeSH hits: 106

Open Europe PMC search

Who's working on it?

1,127

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
    Krämer S7 papers · 2026

    Department of Dermatology, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  2. 02
    Hu JC5 papers · 2026

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.

    Papers in Europe PMC
  3. 03
    Véliz S5 papers · 2026

    Special Care Dentistry Unit, Facultad de Odontología, Universidad de Chile, Santiago, Chile.

    Papers in Europe PMC
  4. 04
    Wang SK5 papers · 2026

    Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  5. 05
    Zhang Y5 papers · 2026

    Department of Biomedical Sciences, Texas A&M University School of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, United States.

    Papers in Europe PMC
  6. 06
    Has C4 papers · 2025

    Department of Dermatology, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  7. 07
    Simmer JP4 papers · 2026

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.

    Papers in Europe PMC
  8. 08
    Au CW3 papers · 2026

    Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.

    Papers in Europe PMC
  9. 09
    Besa-Witto C3 papers · 2026

    Special Care Dentistry Unit, Faculty of Dentistry, University of Chile, Santiago 8380544, Chile.

    Papers in Europe PMC
  10. 10
    Bloch-Zupan A3 papers · 2026

    Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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

5 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched 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 2026-07-26

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.

"Amelogenesis imperfecta"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Amelogenesis Imperfecta

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

"Amelogenesis imperfecta" OR "COL17A1" OR "WDR72"

Recall-expansion terms: COL17A1, WDR72

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (3311) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:25:07.576Z