VBU
MCID: VBR001
MIFTS: 37

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 58 12 54 26 60 76 38 6 15 17 74
Vibratory Angioedema 58 54 26 60 76 74
Dermodistortive Urticaria 58 26 76 74
Vbu 58 26 76
Ddu 58 26
Dermodistortive Urticaria; Ddu 58
Angioedema, Vibratory 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals are negative for dermatographism


HPO:

33
vibratory urticaria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1554
OMIM 58 125630
KEGG 38 H01799
ICD9CM 36 708.4
MeSH 45 D000799
SNOMED-CT 69 51247001
ICD10 34 L50.4

Summaries for Vibratory Urticaria

Genetics Home Reference : 26 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 cone-rod dystrophy and hearing loss 2. 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, eye and spinal cord, and related phenotypes are urticaria and flushing

NIH Rare Diseases : 54 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.

OMIM : 58 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 : 76 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 : 77 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 38)
# Related Disease Score Top Affiliating Genes
1 dermographism, familial 11.4
2 cone-rod dystrophy and hearing loss 2 11.1
3 angioedema 10.6
4 urticaria 10.4
5 carpal tunnel syndrome 10.1
6 mononeuropathy of the median nerve, mild 10.1
7 acute transverse myelitis 9.9 CXCL8 MMP9
8 transverse myelitis 9.9 CXCL8 MMP9
9 cryptogenic organizing pneumonia 9.9 CXCL8 MMP9
10 periodontosis 9.9 CXCL8 MMP9
11 mycetoma 9.9 CXCL8 MMP9
12 tuberculous meningitis 9.9 CXCL8 MMP9
13 meningitis 9.9 CXCL8 MMP9
14 pyoderma 9.9 CXCL8 MMP9
15 preterm premature rupture of the membranes 9.9 CXCL8 MMP9
16 appendicitis 9.9 CXCL8 MMP9
17 bronchiolitis obliterans 9.9 CXCL8 MMP9
18 bacterial meningitis 9.9 CXCL8 MMP9
19 spinal cord injury 9.9 CXCL8 MMP9
20 chorioamnionitis 9.9 CXCL8 MMP9
21 gingivitis 9.9 CXCL8 MMP9
22 stomach disease 9.9 CXCL8 MMP9
23 female reproductive system disease 9.9 CXCL8 MMP9
24 reproductive system disease 9.8 CXCL8 MMP9
25 proteasome-associated autoinflammatory syndrome 1 9.8 CXCL8 MMP9
26 periodontitis 9.8 CXCL8 MMP9
27 microvascular complications of diabetes 1 9.8 CXCL8 MMP9
28 respiratory system disease 9.8 CXCL8 MMP9
29 interstitial lung disease 9.8 CXCL8 MMP9
30 lung disease 9.8 CXCL8 MMP9
31 periodontal disease 9.8 CXCL8 MMP9
32 gastrointestinal system disease 9.8 CXCL8 MMP9
33 pulmonary disease, chronic obstructive 9.8 CXCL8 MMP9
34 pulmonary fibrosis, idiopathic 9.7 CXCL8 MMP9
35 arthritis 9.7 CXCL8 MMP9
36 squamous cell carcinoma, head and neck 9.7 CXCL8 MMP9
37 large intestine cancer 9.6 CXCL8 MMP9
38 gastric adenocarcinoma 9.5 CXCL8 MMP9

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:

33
# Description HPO Frequency HPO Source Accession
1 urticaria 33 HP:0001025
2 flushing 33 HP:0031284
3 facial erythema 33 HP:0001041

Symptoms via clinical synopsis from OMIM:

58
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 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:

42
Skin, Eye, Spinal Cord

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

(show all 15)
# Title Authors Year
1
Ordinary vibratory angioedema is not generally associated with ADGRE2 mutation. ( 30445064 )
2018
2
Vibratory Urticaria and ADGRE2. ( 27406365 )
2016
3
Vibratory Urticaria and ADGRE2. ( 27406366 )
2016
4
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. ( 26841242 )
2016
5
Snoring-Induced Vibratory Angioedema. ( 26437464 )
2015
6
Amitriptyline and bromazepam in the treatment of vibratory angioedema: which role for neuroinflammation? ( 25052839 )
2014
7
Vibratory angioedema in a trumpet professor. ( 24605352 )
2014
8
Vibratory angioedema in a saxophonist. ( 19958741 )
2009
9
Vibratory angioedema: lesion induction, clinical features, laboratory and ultrastructural findings and response to therapy. ( 2576934 )
1989
10
Vibratory urticaria associated with bladder-wall infection with the yeast Torulopsis glabrata. ( 2778247 )
1989
11
Delayed vibratory angioedema: insights into pathophysiologic mechanisms. ( 2447143 )
1987
12
Occupationally acquired vibratory angioedema with secondary carpal tunnel syndrome. ( 6848041 )
1983
13
Dermo-distortive urticaria: an autosomal dominant dermatologic disorder. ( 7294069 )
1981
14
Hereditary vibratory angioedema: confirmation of histamine release in a type of physical hypersensitivity. ( 58881 )
1976
15
Vibratory angioedema: a hereditary type of physical hypersensitivity. ( 5050327 )
1972

Variations for Vibratory Urticaria

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

76
# 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
2 ADGRE2 NM_013447.3(ADGRE2): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs199718602 GRCh37 Chromosome 19, 14865881: 14865881

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 ADGRE2 CXCL8
2 cytokine-mediated signaling pathway GO:0019221 8.62 CXCL8 MMP9

Sources for Vibratory Urticaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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