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ORPHA:100034

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

low confidenceSubtype of disorder

Also known as: Amelogenesis imperfecta type 4

Publications

1,937

Trials

0

Interventional, condition-specific

Researchers

112

Distinct authors in sample

Gene link

DLX3

Strong

Readiness

4/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

AI4 · AIHHT · DLX3 amelogenesis imperfecta · amelogenesis imperfecta caused by mutation in DLX3 · amelogenesis imperfecta type 4

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — DLX3

  2. LiteraturePresent

    1,937 matched papers (1,113 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Amelogenesis imperfecta; Enamel hypoplasia; Yellow-brown discoloration of the teeth) Source

  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 trialPartial

    None under the specific name; 3 for broader category amelogenesis imperfecta

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 (DLX3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

4

Associated phenotypes · MONDO:0007093

  • Amelogenesis imperfecta
  • Enamel hypoplasia
  • Yellow-brown discoloration of the teeth
  • Taurodontia

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?

1,937

1,937 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=3967) is 59.

1,937 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).

1,113 in the last 10 years · low confidence

Phrase hits: 19 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

112

Distinct author names in 21 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
    Aldred MJ2 papers · 2005
    Papers in Europe PMC
  2. 02
    Bloch-Zupan A2 papers · 2023

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

    Papers in Europe PMC
  3. 03
    Crawford PJ2 papers · 2007

    Paediatric Dentistry, Division of Child Dental Health, Dental School, Lower Maudlin St,, Bristol BS1 2LY, UK. Peter.Crawford@bristol.ac.uk

    Papers in Europe PMC
  4. 04
    MacDougall M2 papers · 2015

    Department of Oral and Maxillofacial Surgery, Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, Alabama, USA.

    Papers in Europe PMC
  5. 05
    Afreen LK1 paper · 2015

    Department of Oral and Maxillofacial Surgery, Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, Alabama, USA.

    Papers in Europe PMC
  6. 06
    Ahmed N1 paper · 2022

    General Dental Practitioner, Max Dental Specialties, Bangalore, Karnataka, India.

    Papers in Europe PMC
  7. 07
    Ahn BD1 paper · 2008
    Papers in Europe PMC
  8. 08
    Al-Batayneh OB1 paper · 2012

    Department of Preventive Dentistry, Faculty of Dentistry, Jordan University of Science and Technology, P.O. Box 3030, Irbid 22110, Jordan.

    Papers in Europe PMC
  9. 09
    Alaluusua S1 paper · 2007
    Papers in Europe PMC
  10. 10
    Alansari R1 paper · 2019

    Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional 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). 3 trials are registered for amelogenesis imperfecta, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched amelogenesis imperfecta, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: amelogenesis imperfecta

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism — 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.

("Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" OR "Amelogenesis imperfecta type 4" OR "AIHHT" OR "DLX3 amelogenesis imperfecta" OR "amelogenesis imperfecta caused by mutation in DLX3") OR (MESH:"Amelogenesis Imperfecta, Type IV") OR ("DLX3" OR "DLX3 syndrome" OR "DLX3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Amelogenesis Imperfecta, Type IV

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

"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" OR "Amelogenesis imperfecta type 4" OR "AIHHT" OR "DLX3 amelogenesis imperfecta" OR "amelogenesis imperfecta caused by mutation in DLX3" OR "Amelogenesis Imperfecta, Type IV"

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

Parent-category trials query:

"amelogenesis imperfecta"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AI4

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1937) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:55:51.054Z