ORPHA:100034
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Also known as: Amelogenesis imperfecta type 4
Publications
21
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
112
Distinct authors in sample
Gene link
DLX3
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007093
- MeSH:C566293
- OMIM:104510
- UMLS:C1863012
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — DLX3
- LiteraturePresent
21 matched papers (9 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
21
21 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=5449) is 41.
21 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).
9 in the last 10 years · medium confidence · 26.3th percentile (publications denominator)
Phrase hits: 19 · MeSH hits: 2
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.
- 01Aldred MJ2 papers · 2005Papers in Europe PMC
- 02Bloch-Zupan A2 papers · 2023
Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.
Papers in Europe PMC - 03Crawford 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 - 04MacDougall 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 - 05Afreen 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 - 06Ahmed N1 paper · 2022
General Dental Practitioner, Max Dental Specialties, Bangalore, Karnataka, India.
Papers in Europe PMC - 07Ahn BD1 paper · 2008Papers in Europe PMC
- 08Al-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 - 09Alaluusua S1 paper · 2007Papers in Europe PMC
- 10Alansari 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "DLX3"
Recall-expansion terms: DLX3
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, recall-expansion; 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
Ingested 2026-07-27T06:55:51.054Z