VBU
MCID: VBR001
MIFTS: 35

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 57 12 53 25 59 74 37 6 15 17 72 33
Vibratory Angioedema 57 53 25 59 74 72
Dermodistortive Urticaria 57 25 74 72
Vbu 57 25 74
Ddu 57 25
Dermodistortive Urticaria; Ddu 57
Angioedema, Vibratory 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals are negative for dermatographism


HPO:

32
vibratory urticaria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1554
OMIM 57 125630
KEGG 37 H01799
ICD9CM 35 708.4
MeSH 44 D000799
SNOMED-CT 68 51247001
ICD10 33 L50.4
UMLS 72 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 dermographism, familial and angioedema. An important gene associated with Vibratory Urticaria is ADGRE2 (Adhesion G Protein-Coupled Receptor E2), and among its related pathways/superpathways are IL-17 Family Signaling Pathways and Transcriptional misregulation in cancer. Affiliated tissues include skin, and related phenotypes are urticaria and flushing

NIH Rare Diseases : 53 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)

KEGG : 37
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 : 74 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 : 75 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:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 dermographism, familial 11.5
2 angioedema 10.6
3 urticaria 10.4
4 physical urticaria 10.3
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
10 acute transverse myelitis 9.8 MMP9 CXCL8
11 transverse myelitis 9.8 MMP9 CXCL8
12 cryptogenic organizing pneumonia 9.8 MMP9 CXCL8
13 periodontosis 9.8 MMP9 CXCL8
14 mycetoma 9.8 MMP9 CXCL8
15 tuberculous meningitis 9.8 MMP9 CXCL8
16 meningitis 9.8 MMP9 CXCL8
17 pyoderma 9.8 MMP9 CXCL8
18 preterm premature rupture of the membranes 9.8 MMP9 CXCL8
19 appendicitis 9.8 MMP9 CXCL8
20 bronchiolitis obliterans 9.8 MMP9 CXCL8
21 bacterial meningitis 9.8 MMP9 CXCL8
22 gingivitis 9.8 MMP9 CXCL8
23 chorioamnionitis 9.8 MMP9 CXCL8
24 spinal cord injury 9.8 MMP9 CXCL8
25 stomach disease 9.8 MMP9 CXCL8
26 female reproductive system disease 9.8 MMP9 CXCL8
27 reproductive system disease 9.7 MMP9 CXCL8
28 proteasome-associated autoinflammatory syndrome 1 9.7 MMP9 CXCL8
29 periodontitis 9.7 MMP9 CXCL8
30 microvascular complications of diabetes 1 9.7 MMP9 CXCL8
31 respiratory system disease 9.7 MMP9 CXCL8
32 interstitial lung disease 9.7 MMP9 CXCL8
33 lung disease 9.7 MMP9 CXCL8
34 gastrointestinal system disease 9.6 MMP9 CXCL8
35 pulmonary disease, chronic obstructive 9.6 MMP9 CXCL8
36 pulmonary fibrosis, idiopathic 9.6 MMP9 CXCL8
37 arthritis 9.5 MMP9 CXCL8
38 squamous cell carcinoma, head and neck 9.5 MMP9 CXCL8
39 large intestine cancer 9.4 MMP9 CXCL8
40 gastric adenocarcinoma 9.2 MMP9 CXCL8

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:

32
# Description HPO Frequency HPO Source Accession
1 urticaria 32 HP:0001025
2 flushing 32 HP:0031284
3 facial erythema 32 HP:0001041

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Skin

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. 38 8 71
26841242 2016
2
Dermo-distortive urticaria: an autosomal dominant dermatologic disorder. 38 8 71
7294069 1981
3
Vibratory angioedema: a hereditary type of physical hypersensitivity. 38 8
5050327 1972
4
Genetic linkage analysis of dermo-distortive urticaria. 8
6945804 1981
5
Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia. 38
31337736 2019
6
Ordinary vibratory angioedema is not generally associated with ADGRE2 mutation. 38
30445064 2019
7
Mast cells signal their importance in health and disease. 38
29454835 2018
8
How to Approach Chronic Inducible Urticaria. 38
30033913 2018
9
Omalizumab treatment in patients with chronic inducible urticaria: A systematic review of published evidence. 38
28751232 2018
10
Activation of Adhesion GPCR EMR2/ADGRE2 Induces Macrophage Differentiation and Inflammatory Responses via Gα16/Akt/MAPK/NF-κB Signaling Pathways. 38
28421075 2017
11
Vibrational angioedema: considerations for oral health care providers. 38
27114270 2016
12
Vibratory Urticaria and ADGRE2. 38
27406365 2016
13
Vibratory Urticaria and ADGRE2. 38
27406366 2016
14
[Vibratory urticaria: Implication of a protein causing degranulation]. 38
27237794 2016
15
Snoring-Induced Vibratory Angioedema. 38
26437464 2015
16
Amitriptyline and bromazepam in the treatment of vibratory angioedema: which role for neuroinflammation? 38
25052839 2014
17
Vibratory angioedema in a trumpet professor. 38
24605352 2014
18
Physical urticarias and cholinergic urticaria. 38
24262690 2014
19
Vibratory angioedema in a saxophonist. 38
19958741 2009
20
Leukotriene receptor antagonists in monotherapy or in combination with antihistamines in the treatment of chronic urticaria: a systematic review. 38
21437139 2008
21
Physical urticaria. 38
15120149 2004
22
[Vibratory angioedema]. 38
11460039 2001
23
Chronic urticaria. 38
1970697 1990
24
[The development of recent strategies in the treatment of urticaria as a result of clinically oriented research]. 38
1970207 1990
25
Vibratory urticaria associated with bladder-wall infection with the yeast Torulopsis glabrata. 38
2778247 1989
26
Vibratory angioedema: lesion induction, clinical features, laboratory and ultrastructural findings and response to therapy. 38
2576934 1989
27
Delayed vibratory angioedema: insights into pathophysiologic mechanisms. 38
2447143 1987
28
Nonfamilial, vibration-induced angioedema. 38
6189876 1983
29
Occupationally acquired vibratory angioedema with secondary carpal tunnel syndrome. 38
6848041 1983
30
Hereditary vibratory angioedema: confirmation of histamine release in a type of physical hypersensitivity. 38
58881 1976

Variations for Vibratory Urticaria

ClinVar genetic disease variations for Vibratory Urticaria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADGRE2 NM_013447.4(ADGRE2): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs199718602 19:14865881-14865881 19:14755069-14755069

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

74
# 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

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 8.96 CXCL8 ADGRE2
2 cytokine-mediated signaling pathway GO:0019221 8.62 MMP9 CXCL8

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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