MCID: VBR001
MIFTS: 35

Vibratory Urticaria

Categories: Genetic diseases, Rare diseases, Skin diseases, Immune diseases

Aliases & Classifications for Vibratory Urticaria

MalaCards integrated aliases for Vibratory Urticaria:

Name: Vibratory Urticaria 53 12 49 24 55 71 36 14 69
Vibratory Angioedema 53 49 24 55 71 69
Dermodistortive Urticaria 53 24 71 69
Vbu 53 24 71
Ddu 53 24
Dermodistortive Urticaria; Ddu 53
Angioedema, Vibratory 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals are negative for dermatographism


HPO:

31
vibratory urticaria:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vibratory Urticaria

Genetics Home Reference : 24 Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area. The reaction can be brought on by towel drying, hand clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, facial flushing, and more widespread swelling (especially of the face) can also occur during these episodes, especially if the stimulation is extreme or prolonged. The reaction occurs within a few minutes of the stimulation and generally lasts up to an hour. Affected individuals can have several episodes per day.

MalaCards based summary : Vibratory Urticaria, also known as vibratory angioedema, is related to dermographism, familial and angioedema, and has symptoms including headache, erythema and urticaria. An important gene associated with Vibratory Urticaria is ADGRE2 (Adhesion G Protein-Coupled Receptor E2), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and IL-17 Family Signaling Pathways. Affiliated tissues include skin.

OMIM : 53 Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016). (125630)

UniProtKB/Swiss-Prot : 71 Vibratory urticaria: An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.

NIH Rare Diseases : 49 Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutesĀ of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste in the mouth during episodes of skin involvement. Common triggers include mowing the lawn, riding a motorcycle, horseback riding, or mountain biking. Vibratory urticaria is caused by changes (mutations) in the ADGRE2 gene and appears to be inherited in an autosomal dominant manner. Treatment involves avoiding vibration stimulus and use of antihistamines. Last updated: 7/20/2016

Related Diseases for Vibratory Urticaria

Graphical network of the top 20 diseases related to Vibratory Urticaria:



Diseases related to Vibratory Urticaria

Symptoms & Phenotypes for Vibratory Urticaria

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
flushing during urticarial episodes (in some patients)

Skin Nails Hair Skin:
localized hives with erythema, edema, and pruritus after repetitive vibratory or stretching stimulation

Neurologic Central Nervous System:
headache during urticarial episodes (in some patients)

Head And Neck Mouth:
metallic taste sensation during urticarial episodes (in some patients)

Skin Nails Hair Skin Histology:
degranulation of dermal mast cells

Laboratory Abnormalities:
increased serum histamine level during urticarial episodes


Clinical features from OMIM:

125630

Human phenotypes related to Vibratory Urticaria:

31
# Description HPO Frequency HPO Source Accession
1 headache 31 HP:0002315
2 erythema 31 HP:0010783
3 urticaria 31 HP:0001025
4 angioedema 31 HP:0100665
5 facial erythema 31 HP:0001041

Drugs & Therapeutics for Vibratory Urticaria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939

Search NIH Clinical Center for Vibratory Urticaria

Genetic Tests for Vibratory Urticaria

Anatomical Context for Vibratory Urticaria

MalaCards organs/tissues related to Vibratory Urticaria:

38
Skin

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

# Title Authors Year
1
Vibratory Urticaria and ADGRE2. ( 27406366 )
2016
2
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. ( 26841242 )
2016
3
Vibratory Urticaria and ADGRE2. ( 27406365 )
2016
4
Vibratory urticaria associated with bladder-wall infection with the yeast Torulopsis glabrata. ( 2778247 )
1989

Variations for Vibratory Urticaria

UniProtKB/Swiss-Prot genetic disease variations for Vibratory Urticaria:

71
# Symbol AA change Variation ID SNP ID
1 ADGRE2 p.Cys492Tyr VAR_078578 rs199718602

ClinVar genetic disease variations for Vibratory Urticaria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRE2 NM_013447.3(ADGRE2): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs199718602 GRCh38 Chromosome 19, 14755069: 14755069

Expression for Vibratory Urticaria

Search GEO for disease gene expression data for Vibratory Urticaria.

Pathways for Vibratory Urticaria

GO Terms for Vibratory Urticaria

Biological processes related to Vibratory Urticaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 8.62 ADGRE2 CXCL8

Sources for Vibratory Urticaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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