VBU
MCID: VBR001
MIFTS: 38

Vibratory Urticaria (VBU)

Categories: Eye diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Vibratory Urticaria

MalaCards integrated aliases for Vibratory Urticaria:

Name: Vibratory Urticaria 57 12 20 43 58 72 36 6 15 17 70 32
Vibratory Angioedema 57 20 43 58 72 70
Dermodistortive Urticaria 57 43 72 70
Vbu 57 43 72
Ddu 57 43
Dermodistortive Urticaria; Ddu 57
Angioedema, Vibratory 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 125630
KEGG 36 H01799
ICD9CM 34 708.4
MeSH 44 D000799
SNOMED-CT 67 51247001
ICD10 32 L50.4
UMLS 70 C0157743 C0473546 C1852146

Summaries for Vibratory Urticaria

MedlinePlus Genetics : 43 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 physical urticaria and dermographism, familial. 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 eye and monocytes, and related phenotypes are urticaria and facial erythema

Disease Ontology : 12 A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has material basis in heterozygous mutation in the ADGRE2 gene on chromosome 19p13.

GARD : 20 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® : 57 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 physical urticaria 29.9 ADGRG1 ADGRE5 ADGRE2
2 dermographism, familial 11.2
3 urticaria 10.4
4 allergic disease 10.1
5 carpal tunnel syndrome 10.0
6 leptin deficiency or dysfunction 10.0
7 sleep apnea 10.0
8 chronic inducible urticaria 10.0
9 angioedema 10.0
10 drug dependence 10.0

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 facial erythema 31 HP:0001041
3 flushing 31 HP:0031284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Vibratory Urticaria

Search Clinical Trials , NIH Clinical Center for Vibratory Urticaria

Genetic Tests for Vibratory Urticaria

Anatomical Context for Vibratory Urticaria

MalaCards organs/tissues related to Vibratory Urticaria:

40
Eye, Monocytes

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

(show all 36)
# Title Authors PMID Year
1
Dermo-distortive urticaria: an autosomal dominant dermatologic disorder. 57 6 61
7294069 1981
2
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 61 57
26841242 2016
3
Vibratory angioedema: a hereditary type of physical hypersensitivity. 61 57
5050327 1972
4
Genetic linkage analysis of dermo-distortive urticaria. 57
6945804 1981
5
Emerging mechanisms contributing to mast cell-mediated pathophysiology with therapeutic implications. 61
33130192 2021
6
Vibratory Angioedema Subgroups, Features, and Treatment: Results of a Systematic Review. 61
32961312 2021
7
Vibratory urticaria-angioedema: further insights into the response patterns to vortex provocation test. 61
32239551 2020
8
Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2. 61
32222457 2020
9
Chronic inducible urticaria: classification and prominent features of physical and non-physical types. 61
32975301 2020
10
Stimulation of Vibratory Urticaria-Associated Adhesion-GPCR, EMR2/ADGRE2, Triggers the NLRP3 Inflammasome Activation Signal in Human Monocytes. 61
33488598 2020
11
Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia. 61
31337736 2019
12
Ordinary vibratory angioedema is not generally associated with ADGRE2 mutation. 61
30445064 2019
13
Mast cells signal their importance in health and disease. 61
29454835 2018
14
How to Approach Chronic Inducible Urticaria. 61
30033913 2018
15
Omalizumab treatment in patients with chronic inducible urticaria: A systematic review of published evidence. 61
28751232 2018
16
Activation of Adhesion GPCR EMR2/ADGRE2 Induces Macrophage Differentiation and Inflammatory Responses via Gα16/Akt/MAPK/NF-κB Signaling Pathways. 61
28421075 2017
17
Vibrational angioedema: considerations for oral health care providers. 61
27114270 2016
18
Vibratory Urticaria and ADGRE2. 61
27406365 2016
19
Vibratory Urticaria and ADGRE2. 61
27406366 2016
20
[Vibratory urticaria: Implication of a protein causing degranulation]. 61
27237794 2016
21
Snoring-Induced Vibratory Angioedema. 61
26437464 2015
22
Amitriptyline and bromazepam in the treatment of vibratory angioedema: which role for neuroinflammation? 61
25052839 2014
23
Physical urticarias and cholinergic urticaria. 61
24262690 2014
24
Vibratory angioedema in a trumpet professor. 61
24605352 2014
25
Vibratory angioedema in a saxophonist. 61
19958741 2009
26
Leukotriene receptor antagonists in monotherapy or in combination with antihistamines in the treatment of chronic urticaria: a systematic review. 61
21437139 2008
27
Physical urticaria. 61
15120149 2004
28
[Vibratory angioedema]. 61
11460039 2001
29
Chronic urticaria. 61
1970697 1990
30
[The development of recent strategies in the treatment of urticaria as a result of clinically oriented research]. 61
1970207 1990
31
Vibratory urticaria associated with bladder-wall infection with the yeast Torulopsis glabrata. 61
2778247 1989
32
Vibratory angioedema: lesion induction, clinical features, laboratory and ultrastructural findings and response to therapy. 61
2576934 1989
33
Delayed vibratory angioedema: insights into pathophysiologic mechanisms. 61
2447143 1987
34
Nonfamilial, vibration-induced angioedema. 61
6189876 1983
35
Occupationally acquired vibratory angioedema with secondary carpal tunnel syndrome. 61
6848041 1983
36
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 Position
1 ADGRE2 NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr) SNV Pathogenic 222005 rs199718602 GRCh37: 19:14865881-14865881
GRCh38: 19:14755069-14755069
2 ADGRE2 NM_013447.4(ADGRE2):c.1485G>A (p.Trp495Ter) SNV Pathogenic 1032579 GRCh37: 19:14865871-14865871
GRCh38: 19:14755059-14755059
3 ADGRE2 NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter) SNV Pathogenic 1032580 GRCh37: 19:14863149-14863149
GRCh38: 19:14752337-14752337
4 ADGRE2 NM_013447.4(ADGRE2):c.2384_2385dup (p.Ile796fs) Duplication Pathogenic 1032581 GRCh37: 19:14854309-14854310
GRCh38: 19:14743497-14743498
5 ADGRE2 NM_013447.4(ADGRE2):c.2463+1G>A SNV Pathogenic 1032582 GRCh37: 19:14854231-14854231
GRCh38: 19:14743419-14743419
6 ADGRE2 NM_013447.4(ADGRE2):c.396del (p.Tyr133fs) Deletion Pathogenic 1032583 GRCh37: 19:14877881-14877881
GRCh38: 19:14767069-14767069
7 ADGRE2 NM_013447.4(ADGRE2):c.635-2A>C SNV Pathogenic 1032584 GRCh37: 19:14876618-14876618
GRCh38: 19:14765806-14765806

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

72
# 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 9.91 CD55 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5
2 integral component of membrane GO:0016021 9.76 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
3 plasma membrane GO:0005886 9.61 CD55 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5
4 secretory granule membrane GO:0030667 9.32 CD55 ADGRE5
5 integral component of plasma membrane GO:0005887 9.17 ADGRL1 ADGRG6 ADGRG1 ADGRE5 ADGRE2 ADGRE1

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.86 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
2 G protein-coupled receptor signaling pathway GO:0007186 9.76 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
3 cell adhesion GO:0007155 9.62 ADGRG1 ADGRE5 ADGRE2 ADGRE1
4 cell surface receptor signaling pathway GO:0007166 9.56 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.17 ADGRL1 ADGRG6 ADGRG1 ADGRE5 ADGRE2 ADGRE1

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.56 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
2 collagen binding GO:0005518 9.26 ADGRG6 ADGRG1
3 transmembrane signaling receptor activity GO:0004888 9.23 ADGRL1 ADGRG6 ADGRG1 ADGRF5 ADGRE5 ADGRE2
4 extracellular matrix binding GO:0050840 9.16 ADGRG6 ADGRG1

Sources for Vibratory Urticaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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