Name: Vibratory urticaria | Acronym: VBU
Alt. names:

Gene: ADGRE2 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

Last updated on: 2023-02-28 by Andrés Caballero-Oteyza

OMIM: 125630

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is a condition characterized by local hives (urticaria), swelling, redness and itching of the skin, if exposed to vibration, repetitive stretching or friction. The phenotype is described as an exaggeration of a normal cellular response to dermal vibration. Up to date, one gain of function mutation in ADGRE2, p.Cys492Tyr, is known to cause the disease and functional assessment of this variant has shown that it leads to hypersensitized mast cells resulting in vibration-induced excessive degranulation of the cells. Another potential connection of ADGRE2 to disease was brought by a study of Aust et al. in 2003, in which different ADGRE2 splice variants were detected in colorectal carcinoma cell lines and adenocarcinomas at the mRNA level. However, the protein was only rarely expressed in those cells and expression did not correlate with in vitro migration or invasion capacity of the cells, questioning ADGRE2’s clinical significance in those tumors.

Management

Description of management option has not been reviewed yet.