VBU
MCID: VBR001
MIFTS: 36

Vibratory Urticaria (VBU)

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

Aliases & Classifications for Vibratory Urticaria

MalaCards integrated aliases for Vibratory Urticaria:

Name: Vibratory Urticaria 56 12 52 25 58 73 36 6 15 17 71 32
Vibratory Angioedema 56 52 25 58 73 71
Dermodistortive Urticaria 56 25 73 71
Vbu 56 25 73
Ddu 56 25
Dermodistortive Urticaria; Ddu 56
Angioedema, Vibratory 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals are negative for dermatographism


HPO:

31
vibratory urticaria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare allergic disease


External Ids:

Disease Ontology 12 DOID:1554
OMIM 56 125630
KEGG 36 H01799
ICD9CM 34 708.4
MeSH 43 D000799
SNOMED-CT 67 51247001
ICD10 32 L50.4
UMLS 71 C0157743 C0473546 C1852146

Summaries for Vibratory Urticaria

Genetics Home Reference : 25 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 urticaria and physical urticaria. An important gene associated with Vibratory Urticaria is ADGRE2 (Adhesion G Protein-Coupled Receptor E2), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and GPCRs, Other. Affiliated tissues include skin and eye, and related phenotypes are urticaria and flushing

NIH Rare Diseases : 52 Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes 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 .

OMIM : 56 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)

KEGG : 36 Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Hives, also known as urticaria, is a kind of skin rash with red, raised, itchy bumps. They may also burn... more...

Related Diseases for Vibratory Urticaria

Diseases related to Vibratory Urticaria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 urticaria 30.2 PLCG2 ADGRE2
2 physical urticaria 29.0 PLCG2 ADGRG1 ADGRE2 ADGRB2
3 dermographism, familial 11.5
4 angioedema 10.6
5 drug dependence 10.3
6 allergic hypersensitivity disease 10.2
7 carpal tunnel syndrome 10.1
8 leptin deficiency or dysfunction 10.1
9 sleep apnea 10.1

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



Diseases related to Vibratory Urticaria

Symptoms & Phenotypes for Vibratory Urticaria

Human phenotypes related to Vibratory Urticaria:

31
# Description HPO Frequency HPO Source Accession
1 urticaria 31 HP:0001025
2 flushing 31 HP:0031284
3 facial erythema 31 HP:0001041

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Vibratory Urticaria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased circadian period length GR00213-A 8.8 ADGRB3 ADGRE2 ADGRL1

Drugs & Therapeutics for Vibratory Urticaria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenesis and Genetic Basis 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:

40
Skin, Eye

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

(show all 30)
# Title Authors PMID Year
1
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 61 56 6
26841242 2016
2
Dermo-distortive urticaria: an autosomal dominant dermatologic disorder. 61 56 6
7294069 1981
3
Vibratory angioedema: a hereditary type of physical hypersensitivity. 61 56
5050327 1972
4
Genetic linkage analysis of dermo-distortive urticaria. 56
6945804 1981
5
Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia. 61
31337736 2019
6
Ordinary vibratory angioedema is not generally associated with ADGRE2 mutation. 61
30445064 2019
7
Mast cells signal their importance in health and disease. 61
29454835 2018
8
How to Approach Chronic Inducible Urticaria. 61
30033913 2018
9
Omalizumab treatment in patients with chronic inducible urticaria: A systematic review of published evidence. 61
28751232 2018
10
Activation of Adhesion GPCR EMR2/ADGRE2 Induces Macrophage Differentiation and Inflammatory Responses via Gα16/Akt/MAPK/NF-κB Signaling Pathways. 61
28421075 2017
11
Vibrational angioedema: considerations for oral health care providers. 61
27114270 2016
12
Vibratory Urticaria and ADGRE2. 61
27406365 2016
13
Vibratory Urticaria and ADGRE2. 61
27406366 2016
14
[Vibratory urticaria: Implication of a protein causing degranulation]. 61
27237794 2016
15
Snoring-Induced Vibratory Angioedema. 61
26437464 2015
16
Amitriptyline and bromazepam in the treatment of vibratory angioedema: which role for neuroinflammation? 61
25052839 2014
17
Vibratory angioedema in a trumpet professor. 61
24605352 2014
18
Physical urticarias and cholinergic urticaria. 61
24262690 2014
19
Vibratory angioedema in a saxophonist. 61
19958741 2009
20
Leukotriene receptor antagonists in monotherapy or in combination with antihistamines in the treatment of chronic urticaria: a systematic review. 61
21437139 2008
21
Physical urticaria. 61
15120149 2004
22
[Vibratory angioedema]. 61
11460039 2001
23
Chronic urticaria. 61
1970697 1990
24
[The development of recent strategies in the treatment of urticaria as a result of clinically oriented research]. 61
1970207 1990
25
Vibratory urticaria associated with bladder-wall infection with the yeast Torulopsis glabrata. 61
2778247 1989
26
Vibratory angioedema: lesion induction, clinical features, laboratory and ultrastructural findings and response to therapy. 61
2576934 1989
27
Delayed vibratory angioedema: insights into pathophysiologic mechanisms. 61
2447143 1987
28
Nonfamilial, vibration-induced angioedema. 61
6189876 1983
29
Occupationally acquired vibratory angioedema with secondary carpal tunnel syndrome. 61
6848041 1983
30
Hereditary vibratory angioedema: confirmation of histamine release in a type of physical hypersensitivity. 61
58881 1976

Variations for Vibratory Urticaria

ClinVar genetic disease variations for Vibratory Urticaria:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADGRE2 NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)SNV Pathogenic 222005 rs199718602 19:14865881-14865881 19:14755069-14755069

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

73
# Symbol AA change Variation ID SNP ID
1 ADGRE2 p.Cys492Tyr VAR_078578 rs199718602

Expression for Vibratory Urticaria

Search GEO for disease gene expression data for Vibratory Urticaria.

Pathways for Vibratory Urticaria

GO Terms for Vibratory Urticaria

Cellular components related to Vibratory Urticaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
2 integral component of membrane GO:0016021 9.76 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
3 plasma membrane GO:0005886 9.61 PLCG2 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5
4 integral component of plasma membrane GO:0005887 9.17 ADGRL1 ADGRG6 ADGRG1 ADGRE5 ADGRE2 ADGRB3

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.86 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
2 signal transduction GO:0007165 9.81 PLCG2 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5
3 positive regulation of synapse assembly GO:0051965 9.5 ADGRL1 ADGRB3 ADGRB2
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.5 ADGRL1 ADGRG6 ADGRG1 ADGRE5 ADGRE2 ADGRB3
5 cell surface receptor signaling pathway GO:0007166 9.23 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2

Molecular functions related to Vibratory Urticaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.26 ADGRG6 ADGRG1
2 G protein-coupled receptor activity GO:0004930 9.23 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
3 extracellular matrix binding GO:0050840 9.16 ADGRG6 ADGRG1
4 transmembrane signaling receptor activity GO:0004888 9.13 ADGRG1 ADGRF5 ADGRE5

Sources for Vibratory Urticaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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