ORPHA:231568
Autosomal dominant generalized dystrophic epidermolysis bullosa
Synonyms: Generalized DDEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant generalized dystrophic epidermolysis bullosa | Generalized DDEB |
| fr | Epidermolyse bulleuse dystrophique généralisée autosomique dominante | EBDD généralisée |
| de | Epidermolysis bullosa, dystrophe, generalisierte, autosomal-dominante | DDEB vom Typ Pasini und Cockayne-Touraine · DDEB-gen · Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Pasini und Cockayne-Touraine · Generalisierte dominante EBD |
| es | Epidermólisis ampollosa distrófica generalizada autosómica dominante | DDEB generalizada · Epidermólisis bullosa distrófica generalizada autosómica dominante |
| it | Epidermolisi bollosa distrofica generalizzata autosomica dominante | |
| nl | Autosomaal dominante gegeneraliseerde dystrofische epidermolysis bullosa | Gegeneraliseerde DDEB |
| pt | Epidermólise bolhosa distrófica generalizada autossómica dominante | |
| pl | Pęcherzowe oddzielanie się naskórka uogólnione dystroficzne autosomalne dominująca | Autosomalne dominujące pęcherzowe oddzielanie się naskórka postać dystroficzna, typy Pasiniego i Cockayne'a i Touraine'a · Dystroficzne dominujące pęcherzowe oddzielanie się naskórka, postać uogólniona |
| cs | Generalizovaná dominantní epidermolysis bullosa dystrophica | DDEB, generalizovaná · DDEB-gen · Autozomálně dominantní epidermolysis bullosa dystrophica, Pasiniho a Cockayneův-Touraineův typ · DDEB, Pasiniho a Cockayneův-Touraineův typ · Autozomálně dominantní epidermolysis bullosa dystrophica, Pasiniho a Cockayne-Touraineův typ · DDEB, Pasiniho a Cockayne-Touraineův typ |
| uk | Аутосомно-домінантний генералізований дистрофічний бульозний епідермоліз | Узагальнений DDEB |
| zh | 全身性显性大疱性营养不良型表皮松解症 | Pasini 和 Cockayne-Tourain型常染色体显性营养不良型大疱性表皮松解症 |
| tr | Jeneralize dominant distrofik epidermolizis bülloza | DDEB-gen · DDEB, jeneralize · DDEB, Pasini ve Cockayne-Touraine tipleri · Otozomal dominant distrofik epidermolizis bülloza, Pasini ve Cockayne-Touraine tipleri |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131750 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| MONDO | 0007549 | E | validated | |
| MONDO | 7549 | E | validated | |
| UMLS | C5679846 | E | validated | |
| GARD | 2139 | 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 (1):
- ORPHA:303Dystrophic epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79407Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type moved to · inactive
- ORPHA:216989Autosomal dominant dystrophic epidermolysis bullosa, Pasini type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL7A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain |
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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.
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HPO phenotypes
15 annotations · validated 2020-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000987 | Atypical scarring of skin | |
| Frequent (79-30%) | ||
| HP:0031045 | Acral blistering | |
| HP:0001810 | Dystrophic toenail | |
| HP:0001030 | Fragile skin | |
| HP:0001056 | Milia | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0001802 | Absent toenail | |
| HP:0001075 | Atrophic scars | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0031446 | Erosion of oral mucosa | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0008390 | Recurrent loss of toenails and fingernails | |
| HP:0200041 | Skin erosion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301481[PMID]_31065125[PMID]_29963685[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231568
- This record as JSON: /data/d/231568.json