ORPHA:1946
Amelocerebrohypohidrotic syndrome
Also known as: Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome
Publications
264
67.9th percentile
Trials
0
Interventional, condition-specific
Researchers
717
Distinct authors in sample
Gene link
ROGDI
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A genetically heterogeneous syndrome characterized by the triad of amelogenesis imperfect, onset , with or without regression and dementia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009185
- MeSH:C537213
- OMIM:226750
- UMLS:C0406740
Additional Mondo synonyms (3)
Kohlschutter-Tonz syndrome · amelocerebrohypohidrotic syndrome · epilepsy-dementia-amelogenesis imperfecta syndrome
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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — ROGDI
- LiteraturePresent
264 matched papers (196 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Hydrocephalus; Mental deterioration; Developmental regression) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (ROGDI).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0009185
- Hydrocephalus
- Mental deterioration
- Developmental regression
- Short stature
- Amelogenesis imperfecta
Showing 5 of 35 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Rogditm1.2Ics/Rogditm1.2Ics [background:] involves: C57BL/6N·MGI:7619909·Mus musculus
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?
264
264 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=3967) is 59.
264 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).
196 in the last 10 years · medium confidence · 67.9th percentile (publications denominator)
Phrase hits: 92 · MeSH hits: 0
Who's working on it?
717
Distinct author names in 92 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.
- 01Zschocke J9 papers · 2025
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 02Schossig A7 papers · 2021
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 03Bloch-Zupan A5 papers · 2024
Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.
Papers in Europe PMC - 04Lee J4 papers · 2022
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, South Korea.
Papers in Europe PMC - 05Wolf NI4 papers · 2017
Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Wright JT4 papers · 2023
Department of Basic Science and Craniofacial Biology, College of Dentistry, New York University, New York, New York; Department of Preventive and Restorative Dental Sciences, University of California, San Francisco, San Francisco, California; Department of Pediatric Dentistry, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina; Herman Ostrow School of Dentistry, Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, California.
Papers in Europe PMC - 07Dander A3 papers · 2014Papers in Europe PMC
- 08Fischer M3 papers · 2014
Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria. maria.fischer@i-med.ac.at
Papers in Europe PMC - 09Hernandez M3 papers · 2024
Centre Hospitalier Régional Universitaire de Nancy, Université de Lorraine, Competence Center for Rare Oral and Dental Diseases, Nancy, France.
Papers in Europe PMC - 10Jimenez-Armijo A3 papers · 2024
Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), IN-SERM U1258, CNRS- UMR7104, Illkirch, France.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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
- NCT04681781·ENROLLING BY INVITATION·SLC13A5 Deficiency Natural History Study - Remote Only
Conditions: Citrate Transporter Deficiency · Epilepsy · Rare Diseases · Movement Disorders·Matched via name phrase
- NCT06144957·ENROLLING BY INVITATION·SLC13A5 Deficiency Natural History Study - United States Only
Conditions: Citrate Transporter Deficiency · Epilepsy · Rare Diseases · Movement Disorders·Matched via name phrase
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29
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).
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 Amelocerebrohypohidrotic syndrome — check Associations / patient organisations on that page.
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.
("Amelocerebrohypohidrotic syndrome" OR "Epilepsy-dementia-amelogenesis imperfecta syndrome" OR "Kohlschütter-Tönz syndrome" OR "Kohlschutter-Tonz syndrome") OR ("ROGDI" OR "ROGDI syndrome" OR "ROGDI-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Amelocerebrohypohidrotic syndrome" OR "Epilepsy-dementia-amelogenesis imperfecta syndrome" OR "Kohlschütter-Tönz syndrome" OR "Kohlschutter-Tonz syndrome"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:34:37.962Z