ORPHA:79500
DOORS syndrome
Also known as: Autosomal recessive deafness-onychodystrophy syndrome · Autosomal recessive hearing loss-onychodystrophy syndrome · DOOR syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Deafness-onychoosteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
71,895
Trials
0
Interventional, condition-specific
Researchers
1,225
Distinct authors in sample
Gene link
ATP6V1B2, TBC1D24
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies- syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound , and .
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:0009079
- MeSH:C563052
- OMIM:220500
- UMLS:C0795934
Additional Mondo synonyms (5)
autosomal recessive deafness-onychodystrophy syndrome · deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome · deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · deafness-onychoosteodystrophy-intellectual disability syndrome · door 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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ATP6V1B2, TBC1D24
- LiteraturePresent
71,895 matched papers (39,610 in last 10 years) Source
- Phenotype characterisedPresent
141 HPO annotations (e.g. Ventricular septal defect; Thickened nuchal skin fold; Atrial septal defect) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- 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 (ATP6V1B2, TBC1D24).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
141
Associated phenotypes · MONDO:0009079
- Ventricular septal defect
- Thickened nuchal skin fold
- Atrial septal defect
- Epicanthus
- Hearing impairment
Showing 5 of 141 — open Monarch for the full list.
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?
71,895
71,895 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.
71,895 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).
39,610 in the last 10 years · low confidence
Phrase hits: 248 · MeSH hits: 0
Who's working on it?
1,225
Distinct author names in 200 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.
- 01Campeau PM20 papers · 2024
Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Papers in Europe PMC - 02Ajeawung NF8 papers · 2021
Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.
Papers in Europe PMC - 03Sisodiya SM7 papers · 2024
Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 04Dai P6 papers · 2026
1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, Hainan 572000, China.
Papers in Europe PMC - 05Gao X6 papers · 2026
Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
Papers in Europe PMC - 06Fassio A5 papers · 2025
Department of Experimental Medicine, University of Genoa, Genoa, Italy. afassio@unige.it.
Papers in Europe PMC - 07Nguyen TTM5 papers · 2021
Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada.
Papers in Europe PMC - 08Oliver PL5 papers · 2025
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK; MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK. Electronic address: p.oliver@har.mrc.ac.uk.
Papers in Europe PMC - 09Rousseau J5 papers · 2024
Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada.
Papers in Europe PMC - 10Falace A4 papers · 2024
Aix-Marseille University, INSERM U1249, INMED, Marseille 13009, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-30
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).
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 DOORS 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.
("DOORS syndrome" OR "Autosomal recessive deafness-onychodystrophy syndrome" OR "Autosomal recessive hearing loss-onychodystrophy syndrome" OR "DOOR syndrome" OR "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" OR "Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" OR "Deafness-onychoosteodystrophy-intellectual disability syndrome" OR "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome" OR "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" OR "Hearing loss-onychoosteodystrophy-intellectual disability syndrome") OR (MESH:"Digitorenocerebral Syndrome") OR ("ATP6V1B2" OR "ATP6V1B2 syndrome" OR "ATP6V1B2-related" OR "TBC1D24" OR "TBC1D24 syndrome" OR "TBC1D24-related" OR "DOORS" OR "DOORS-related")MeSH descriptor terms unioned into the query: Digitorenocerebral Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DOORS syndrome" OR "Autosomal recessive deafness-onychodystrophy syndrome" OR "Autosomal recessive hearing loss-onychodystrophy syndrome" OR "DOOR syndrome" OR "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" OR "Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" OR "Deafness-onychoosteodystrophy-intellectual disability syndrome" OR "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome" OR "Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" OR "Hearing loss-onychoosteodystrophy-intellectual disability syndrome" OR "Digitorenocerebral Syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (71895) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:31:11.537Z