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 3 strategies returned hits (phrase).
Publications
248
71.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,225
Distinct authors in sample
Gene link
ATP6V1B2, TBC1D24
Definitive
Readiness
2/6
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.”
2/6 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
248 matched papers (135 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 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)
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?
248
248 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.
248 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).
135 in the last 10 years · medium confidence · 71.7th percentile (publications denominator)
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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"
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" OR "ATP6V1B2" OR "TBC1D24"
Recall-expansion terms: ATP6V1B2, TBC1D24
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T02:31:11.537Z