ORPHA:2841
Hailey-Hailey disease
Synonyms: Benign chronic familial pemphigus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, chronic epidermal disorder characterized by diffuse bilateral (or, rarely, localized segmental) erythematous plaques with blistering, erosions, maceration, and frequent secondary infection involving the flexural areas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hailey-Hailey disease | Benign chronic familial pemphigus |
| fr | Maladie de Hailey-Hailey | Pemphigus bénin chronique familial |
| de | Hailey-Hailey-Krankheit | Benigner chronischer familiärer Pemphigus |
| es | Enfermedad de Hailey-Hailey | Pénfigo benigno crónico familiar |
| it | Malattia di Hailey-Hailey | Pemfigo benigno cronico familiare · Pemfigo benigno cronico familiare di Hailey-Hailey |
| nl | Ziekte van Hailey-Hailey | Goedaardige chronische familiale pemfigus |
| pt | Doença Hailey-Hailey | Pênfigo crónico benigno familiar Hailey-Hailey |
| pl | Rodzinna łagodna pęcherzyca przewlekła | Choroba Hailey'a i Hailey'a · Rodzinna łagodna pęcherzyca Haileya i Haileya · Rodzinna łagodna przewlekła pęcherzyca · Choroba Haileya-Haileya |
| cs | Familiární benigní chronický pemfigus | Haileyova-Haileyova nemoc · Haileyův-Haileyův familiární benigní chronický pemfigus · Hailey-Haileyův familiární benigní chronický pemfigus · Hailey-Haileyova nemoc |
| uk | Хвороба Хейлі-Хейлі | Доброякісний хронічний сімейний пемфігус Хейлі-Хейлі |
| zh | 家族性良性慢性天疱疮 | Hailey-Hailey良性慢性家族性天疱疮 |
| tr | Ailesel selim kronik pemfigus | Hailey-Hailey hastalığı · Hailey-Hailey selim kronik ailesel pemfigusu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169600 | E | validated | |
| ICD-10 | Q82.8 | NTBT | inclusion | validated |
| ICD-11 | EC20.2 | NTBT | index | validated |
| MONDO | 0008218 | E | validated | |
| MeSH | D016506 | E | validated | |
| UMLS | C0085106 | E | validated | |
| GARD | 6559 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183426Genetic epidermal disorder
rare genetic diseases - ORPHA:79359Other epidermal disorder
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP2C1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13211 | ENSG00000017260 | 604384 | 3q22.1 | ATPase secretory pathway Ca2+ transporting 1 | 10615129[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | 27057511[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100792 | Acantholysis | |
| HP:0010783 | Erythema | |
| HP:0000962 | Hyperkeratosis | |
| HP:0200041 | Skin erosion | |
| HP:0200037 | Skin vesicle | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2841
- This record as JSON: /data/d/2841.json