MCID: VBR001
MIFTS: 31

Vibratory Urticaria

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vibratory Urticaria

MalaCards integrated aliases for Vibratory Urticaria:

Name: Vibratory Urticaria 54 12 50 25 71 14 69
Vibratory Angioedema 50 25 71 69
Dermodistortive Urticaria 25 71 69
Vbu 25 71
Angioedema, Vibratory 50
Ddu 25

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals are negative for dermatographism


HPO:

32
vibratory urticaria:
Inheritance autosomal dominant inheritance


Classifications:



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 drug rash with eosinophilia and systemic symptoms, and has symptoms including headache, erythema and urticaria. 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.

NIH Rare Diseases : 50 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. last updated: 7/20/2016

OMIM : 54
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 : 71 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.

Related Diseases for Vibratory Urticaria

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

(show all 33)
id Related Disease Score Top Affiliating Genes
1 urticaria 10.1
2 drug rash with eosinophilia and systemic symptoms 9.9 CXCL8 MMP9
3 tuberculous salpingitis 9.9 CXCL8 MMP9
4 follicular mucinosis 9.9 CXCL8 MMP9
5 tricho onychic dysplasia 9.9 CXCL8 MMP9
6 lung papillary adenocarcinoma 9.9 CXCL8 MMP9
7 tumefactive multiple sclerosis 9.9 CXCL8 MMP9
8 mycobacterium gordonae 9.9 CXCL8 MMP9
9 myopathy 9.9 CXCL8 MMP9
10 endocervical type cervical mucinous adenocarcinoma 9.9 CXCL8 MMP9
11 burn scar 9.9 CXCL8 MMP9
12 neuropathy, hereditary sensory and autonomic, type vi 9.8 CXCL8 MMP9
13 angioedema 9.8
14 neonatal period electroclinical syndrome 9.8 CXCL8 MMP9
15 intra-abdominal lymph node mast cell malignancy 9.8 CXCL8 MMP9
16 spinal stenosis 9.8 CXCL8 MMP9
17 sheehan syndrome 9.8 CXCL8 MMP9
18 germ cell and embryonal cancer 9.8 CXCL8 MMP9
19 acute chest syndrome 9.8 CXCL8 MMP9
20 optic nerve hypoplasia 9.8 CXCL8 MMP9
21 vulva fibroepithelial polyp 9.8 CXCL8 MMP9
22 pulmonary embolism 9.7 CXCL8 MMP9
23 villous adenoma 9.7 CXCL8 MMP9
24 granulomatous orchitis 9.7 CXCL8 MMP9
25 inappropriate adh syndrome 9.7 CXCL8 MMP9
26 zimmermann-laband syndrome 2 9.7 CXCL8 MMP9
27 bullous skin disease 9.6 CXCL8 MMP9
28 diamond-blackfan anemia 3 9.6 CXCL8 MMP9
29 atherosclerosis 9.5 CXCL8 MMP9
30 nail disorder, nonsyndromic congenital, 3, 9.5 CXCL8 MMP9
31 macular degeneration, age-related, 1 9.4 CXCL8 MMP9
32 ichthyosis, congenital, autosomal recessive 12 9.3 ADGRE2 CXCL8 MMP9
33 gastric fundus cancer 9.2 CXCL8 MMP9

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:

54

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
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 erythema 32 HP:0010783
3 urticaria 32 HP:0001025
4 angioedema 32 HP:0100665
5 facial erythema 32 HP:0001041

Drugs & Therapeutics for Vibratory Urticaria

Interventional clinical trials:


id 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:

39
Skin

Publications for Vibratory Urticaria

Articles related to Vibratory Urticaria:

id Title Authors Year
1
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. ( 26841242 )
2016
2
Vibratory Urticaria and ADGRE2. ( 27406365 )
2016
3
Vibratory Urticaria and ADGRE2. ( 27406366 )
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:

71
id Symbol AA change Variation ID SNP ID
1 ADGRE2 p.Cys492Tyr VAR_078578 rs199718602

ClinVar genetic disease variations for Vibratory Urticaria:

6
id 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

Expression for Vibratory Urticaria

Search GEO for disease gene expression data for Vibratory Urticaria.

Pathways for Vibratory Urticaria

GO Terms for Vibratory Urticaria

Sources for Vibratory Urticaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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