VBU
MCID: VBR001
MIFTS: 35

Vibratory Urticaria (VBU)

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

Aliases & Classifications for Vibratory Urticaria

MalaCards integrated aliases for Vibratory Urticaria:

Name: Vibratory Urticaria 57 12 53 25 59 75 37 6 15 73
Vibratory Angioedema 57 53 25 59 75 73
Dermodistortive Urticaria 57 25 75 73
Vbu 57 25 75
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:

OMIM 57 125630
Disease Ontology 12 DOID:1554
ICD10 33 L50.4
ICD9CM 35 708.4
SNOMED-CT 68 51247001
MeSH 44 D000799
KEGG 37 H01799

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 Kaposi's sarcoma-associated herpesvirus infection and IL-17 Family Signaling Pathways. Affiliated tissues include skin, and related phenotypes are urticaria and facial erythema

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)

UniProtKB/Swiss-Prot : 75 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 : 53 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.

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:

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

Human phenotypes related to Vibratory Urticaria:

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

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:

41
Skin

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

# Title Authors Year
1
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. ( 26841242 )
2016
2
Vibratory Urticaria and ADGRE2. ( 27406366 )
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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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