ORPHA:79399
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Synonyms: Autosomal dominant generalized EBS, intermediate form · Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | Autosomal dominant generalized EBS, intermediate form · Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type |
| fr | Epidermolyse bulleuse simple généralisée autosomique dominante, forme intermédiaire | EBS généralisée autosomique dominante, forme intermédiaire · Epidermolyse bulleuse simple type Koebner · Epidermolyse bulleuse simple type Köbner |
| de | Epidermolysis bullosa simplex, generalisierte intermediäre, autosomal-dominante | Autosomal-dominante generalisierte EBS, intermediäre Form · Epidermolysis bullosa simplex, Koebner Typ · Epidermolysis bullosa simplex, Köbner Typ |
| es | Epidermólisis ampollosa simple generalizada intermedia autosómica dominante | EBS generalizada intermedia autosómica dominante · Epidermólisis ampollosa simple tipo Koebner · Epidermólisis ampollosa simple tipo Köbner · Epidermólisis bullosa simple generalizada intermedia autosómica dominante |
| it | Epidermolisi bollosa semplice autosomica dominante generalizzata, forma intermedia | EBS autosomica dominante generalizzata, forma intermedia · Epidermolisi bollosa semplice, tipo Koebner · Epidermolisi bollosa semplice, tipo Köbner |
| nl | Autosomaal dominante gegeneraliseerde epidermolysis bullosa simplex, intermediaire vorm | Autosomaal dominante gegeneraliseerde EBS, intermediaire vorm · Epidermolysis bullosa simplex, Koebner-type · Epidermolysis bullosa simplex, Köbner-type |
| pt | Epidermólise bolhosa generalizada simples autossómica dominante, forma intermédia | EBS generalizada não-Dowling-Meara · Epidermólise bolhosa simples tipo Koebner · Epidermólise bolhosa simples tipo Köbner · Epidermólise bolhosa simples, tipo Köbner |
| pl | Postać prosta uogólniona pęcherzowego oddzielania się naskórka autosomalna dominująca, forma pośrednia | Pęcherzowe oddzielanie się naskórka proste, typ Köbnera · Pęcherzowe oddzielanie się naskórka proste, typ Koebnera · Uogólnione pęcherzowe oddzielanie się naskórka proste, nie typu Dowlinga i Meara |
| cs | Generalizovaná epidermolysis bullosa simplex, non-Dowlingův-Mearův typ | Epidermolysis bullosa simplex, Koebnerův typ · Epidermolysis bullosa simplex, Köbnerův typ · Generalizovaná EBS, non-Dowlingův-Mearův typ · Generalizovaná epidermolysis bullosa simplex, non-Dowling-Mearův typ · Generalizovaná EBS, non-Dowling-Mearův typ |
| uk | Аутосомно-домінантний простий бульозний епідермоліз, помірно виражена форма | Аутосомно-домінантний генералізований БЕС, проміжна форма · Простий бульозний епідермоліз, тип Кьобнера · Простий бульозний епідермоліз, тип Кебнера |
| zh | 单纯型大疱性表皮松解症，中间型 | 全身性单纯型大疱性表皮松解症，非Dowling-Meara型 |
| tr | Epidermolizis bülloza simpleks, orta jeneralize | EBS, jeneralize orta seviye · Jeneralize EBS, Dowling olmayan Meara tipi · Epidermolizis bülloza simpleks, Köbner tipi · Epidermolizis bülloza simpleks, Koebner tipi · Jeneralize epidermolizis bülloza simpleks, Dowling olmayan Meara tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131900 | BTNT | validated | |
| OMIM | 619588 | BTNT | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0007554 | E | validated | |
| UMLS | C0079299 | E | validated | |
| GARD | 2147 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:595346Epidermolysis bullosa simplex without extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:6416 | ENSG00000186847 | 148066 | 17q21.2 | keratin 14 | 20301543[PMID] |
| KRT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 20301543[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
6
HPO phenotypes
17 annotations · validated 2021-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000962 | Hyperkeratosis | |
| HP:0003341 | Junctional split | |
| HP:0007585 | Skin fragility with non-scarring blistering | |
| Frequent (79-30%) | ||
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0005585 | Spotty hyperpigmentation | |
| HP:0005590 | Spotty hypopigmentation | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0009719 | Hypomelanotic macule | |
| HP:0001056 | Milia | |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| Very rare (<4-1%) | ||
| HP:0200034 | Papule | |
| HP:0000989 | Pruritus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28558912[PMID]_30078200[PMID]_27081501[PMID]_20301543[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79399
- This record as JSON: /data/d/79399.json