Inherited epidermolysis bullosa
Synonyms: Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited epidermolysis bullosa | Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa |
| fr | Epidermolyse bulleuse héréditaire | |
| de | Epidermolysis bullosa, hereditäre | |
| es | Epidermólisis ampollosa hereditaria | Epidermólisis bullosa hereditaria |
| it | Epidermolisi bollosa ereditaria | |
| nl | Overgeërfde epidermolysis bullosa | Epidermolysis bullosa hereditaria · Erfelijke epidermolysis bullosa |
| pt | Epidermólise bolhosa hereditária | |
| pl | Dziedziczne pęcherzowe oddzielanie się naskórka | Dziedziczne pęcherzowe oddzielanie się naskórka · Epidermolysis bullosa hereditaria |
| cs | Dědičná epidermolysis bullosa | Epidermolysis bullosa hereditaria · Hereditární epidermolysis bullosa |
| uk | Спадковий бульозний епідермоліз | Спадковий бульозний епідермоліз · Спадковий бульозний епідермоліз |
| zh | 遗传性大疱性表皮松解症 | 遗传性大疱性表皮松解症 |
| tr | Kalıtsal epidermolizis bülloza | Kalıtsal epidermolizis bülloza · Epidermolizis bülloza hereditaria |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019276 | E | validated | |
| MONDO | 19276 | E | validated | |
| UMLS | C1274224 | 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:79353Epidermal disease
rare skin diseases - ORPHA:183426Genetic epidermal disorder
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:263676OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Europe | Value and class | Validated | 20507631[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.96 / 100 000 | Croatia | Value and class | Validated | 2359725[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | United States | Value and class | Validated | 20507631[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | United States | Value and class | Validated | 20507631[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Europe | Value and class | Validated | 20507631[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.59 / 100 000 | China | Value and class | Validated | 34103049[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/79361
- This record as JSON: /data/d/79361.json