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autosomal dominant vibratory urticaria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant vibratory urticaria

MONDO:0007447

Also known as:angioedema, vibratoryvibratory angioedemaDDU

Overview

An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.

GeneticsAutosomal dominant · ADGRE2 (chr 19)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Urticaria, Facial erythema, and Flushing. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Urticaria, Facial erythema, Dermatographic urticaria
Head and neck

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADGRE2 encodes adhesion G protein-coupled receptor E2 (823 aa). Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. Highest expression in Whole Blood (38.8 TPM) and Spleen (25.7 TPM).

Autosomal dominant vibratory urticaria is associated with mutations in the ADGRE2 gene on chromosome 19.

ADGRE2 is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 11.6.

4 pathogenic variants reported in ADGRE2 in ClinVar.

Diagnosis

Genetic testing for ADGRE2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant vibratory urticaria.

6 publications have been identified in PubMed for autosomal dominant vibratory urticaria. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Kawata Y (2026). [PMID: 41075074](https://pubmed.ncbi.nlm.nih.gov/41075074/). *Clin J Gastroenterol*. [Case Report / Case Series]
Wei W (2025). [PMID: 39709908](https://pubmed.ncbi.nlm.nih.gov/39709908/). *Int Immunopharmacol*. [Review / Meta-Analysis]
Gatica-Ortega ME (2025). [PMID: 39938775](https://pubmed.ncbi.nlm.nih.gov/39938775/). *Actas Dermosifiliogr*. [Review / Meta-Analysis]
Aman Ur Rahman W (2025). [PMID: 40711100](https://pubmed.ncbi.nlm.nih.gov/40711100/). *Sports (Basel)*. [Review / Meta-Analysis]
Truong T (2025). [PMID: 40959346](https://pubmed.ncbi.nlm.nih.gov/40959346/). *Cureus*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 1:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125630 OMIM:193050

Orphanet

European rare disease database

Orphanet:493342

GARD

Genetic and Rare Diseases Info Center

GARD:9806

Questions for Your Care Team

→Should I pursue genetic testing for ADGRE2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant vibratory urticaria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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