Vibratory urticaria
Synonyms: Vibratory angioedema/urticaria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vibratory urticaria | Vibratory angioedema/urticaria |
| fr | Urticaire vibratoire | Urticaire/Angioedème vibratoire |
| de | Vibrationsurtikaria | Angioödem/Urtikaria durch Vibration · Vibratorisches Angioödem |
| es | Urticaria vibratoria | Angiodema/urticaria vibratorio |
| it | Orticaria da vibrazione | Orticaria/angioedema da vibrazione |
| nl | Vibratoire urticaria | Urticaria door vibratie · Vibratoir angio-oedeem/urticaria |
| pt | Urticária vibratória | Urticária/angioedema vibratória |
| pl | Pokrzywka wibracyjna | = en |
| cs | Vibrační kopřivka | = en |
| uk | Вібраційна кропивянка | Вібраційний ангіоневротичний набряк/кропивянка |
| zh | 振动性荨麻疹 | |
| tr | Titreşimli ürtiker |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125630 | E | validated | |
| ICD-10 | L50.4 | E | specific | validated |
| ICD-11 | EB01.Y | NTBT | index | validated |
| MONDO | 0007447 | E | validated | |
| MONDO | 7447 | E | validated | |
| MeSH | D000094482 | E | validated | |
| UMLS | C0157743 | E | validated | |
| GARD | 9806 | E | validated | |
| MedDRA | 10052571 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:182734Genetic urticaria
rare genetic diseases - ORPHA:79384Rare urticaria
rare skin diseases; rare allergic disease
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:493348OBSOLETE: Vibratory angioedema referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADGRE2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3337 | ENSG00000127507 | 606100 | 19p13.12 | adhesion G protein-coupled receptor E2 | 26841242[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 26841242[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26841242[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/493342
- This record as JSON: /data/d/493342.json