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ORPHA:88661

Amelogenesis imperfecta

low confidenceDisorder

Publications

5,645

Trials

3

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

COL17A1, WDR72

Definitive

Readiness

5/6

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.”

5/6 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

    5,645 matched papers (3,657 in last 10 years) Source

  3. Phenotype characterisedPresent

    123 HPO annotations (e.g. Nephropathy; Gingival overgrowth; Yellow-brown discoloration of the teeth) Source

  4. Animal modelPresent

    17 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

123

Associated phenotypes · MONDO:0019507

  • Nephropathy
  • Gingival overgrowth
  • Yellow-brown discoloration of the teeth
  • Pulp calcification
  • Impaired renal concentrating ability

Showing 5 of 123 — open Monarch for the full list.

Animal models (Monarch / Alliance)

17

Model associations linked to this Mondo ID

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?

5,645

5,645 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.

5,645 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).

3,657 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 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th 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

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Amelogenesis imperfecta — 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.

("Amelogenesis imperfecta") OR (MESH:"Amelogenesis Imperfecta") OR ("COL17A1" OR "COL17A1 syndrome" OR "COL17A1-related" OR "WDR72" OR "WDR72 syndrome" OR "WDR72-related")

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"

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; 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 (5645) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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