ORPHA:493342
Vibratory urticaria
Also known as: Vibratory angioedema/urticaria
Publications
559
Trials
0
Interventional, condition-specific
Researchers
1,451
Distinct authors in sample
Gene link
ADGRE2
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.
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.
Additional Mondo synonyms (4)
DDU · VBU · dermodistortive urticaria · vibratory urticaria, autosomal dominant
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
Limited — ADGRE2
- LiteraturePresent
559 matched papers (479 in last 10 years) Source
- Phenotype characterisedPresent
4 HPO annotations (e.g. Urticaria; Facial erythema; Dermatographic urticaria) 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?
Possibly — only limited evidence so far for ADGRE2.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
4
Associated phenotypes · MONDO:0007447
- Urticaria
- Facial erythema
- Dermatographic urticaria
- Flushing
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 2026-07-27
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?
559
559 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.
559 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).
479 in the last 10 years · low confidence
Phrase hits: 189 · MeSH hits: 1
Who's working on it?
1,451
Distinct author names in 190 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.
- 01Metcalfe DD10 papers · 2021
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 02Lyons JJ8 papers · 2024
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 03Maurer M8 papers · 2025
Department of Dermatology and Allergy, Charité - Universitätsmedizin, Berlin, Germany. Electronic address: marcus.maurer@charite.de.
Papers in Europe PMC - 04Lin HH6 papers · 2026
Division of Rheumatology, Allergy, and Immunology, Chang Gung Memorial Hospital-Keelung, Keelung 20401, Taiwan.
Papers in Europe PMC - 05Milner JD5 papers · 2024
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD jdmilner@niaid.nih.gov.
Papers in Europe PMC - 06Olivera A5 papers · 2021
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 07Schwartz LB5 papers · 2021
Department of Internal Medicine, Division of Rheumatology, Allergy and Immunology, Virginia Commonwealth University, Richmond, Va.
Papers in Europe PMC - 08Ansotegui IJ4 papers · 2022
Department of Allergy and Immunology, Hospital Quirónsalud Bizkaia, Bilbao, Spain.
Papers in Europe PMC - 09Canonica GW4 papers · 2022
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Personalized Medicine, Asthma and Allergy, Humanitas Clinical and Research Center IRCCS, Rozzano, Italy.
Papers in Europe PMC - 10Gatica-Ortega ME4 papers · 2025
Dermatology Department, University Hospital Complex of Toledo, Toledo, Spain.
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 9 September 2026 · last trial check 9 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 2026-07-27
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 Vibratory urticaria — 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.
("Vibratory urticaria" OR "Vibratory angioedema/urticaria" OR "dermodistortive urticaria" OR "vibratory urticaria, autosomal dominant") OR (MESH:"Vibratory angioedema") OR ("ADGRE2" OR "ADGRE2 syndrome" OR "ADGRE2-related")MeSH descriptor terms unioned into the query: Vibratory angioedema
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vibratory urticaria" OR "Vibratory angioedema/urticaria" OR "dermodistortive urticaria" OR "vibratory urticaria, autosomal dominant" OR "Vibratory angioedema"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DDU; VBU
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (559) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T02:14:44.007Z