ORPHA:79396
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Synonyms: Autosomal dominant generalized EBS, severe form · Epidermolysis bullosa simplex herpetiformis · Epidermolysis bullosa simplex, Dowling-Meara type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | Autosomal dominant generalized EBS, severe form · Epidermolysis bullosa simplex herpetiformis · Epidermolysis bullosa simplex, Dowling-Meara type |
| fr | Epidermolyse bulleuse simple généralisée autosomique dominante, forme sévère | EBS généralisée autosomique dominante, forme sévère · Epidermolyse bulleuse simple herpétiforme · Epidermolyse bulleuse simple type Dowling-Meara |
| de | Epidermolysis bullosa simplex, generalisierte schwere | EBS, generalisierte schwere · Epidermolysis bullosa simplex Typ Dowling-Meara · Epidermolysis bullosa simplex herpetiformis |
| es | Epidermólisis ampollosa simple generalizada grave autosómica dominante | EBS generalizada grave autosómica dominante · Epidermólisis ampollosa simple herpetiforme · Epidermólisis ampollosa simple tipo Dowling-Meara · Epidermólisis bullosa simple generalizada grave autosómica dominante |
| it | Epidermolisi bollosa semplice autosomica dominante generalizzata, forma grave | EBS autosomica dominante generalizzata, forma grave · Epidermolisi bollosa semplice erpetiforme · Epidermolisi bollosa semplice, tipo Dowling-Meara |
| nl | Autosomaal dominante gegeneraliseerde epidermolysis bullosa simplex, ernstige vorm | Autosomaal dominante gegeneraliseerde EBS, ernstige vorm · Epidermolysis bullosa simplex herpetiformis · Epidermolysis bullosa simplex, Dowling-Meara-type |
| pt | Epidermólise bolhosa generalizada simples autossómica dominante, forma grave | Epidermólise bolhosa simples herpetiforme · Epidermólise bolhosa simples, tipo Dowling-Meara |
| pl | Postać prosta uogólniona pęcherzowego oddzielania się naskórka autosomalna dominująca, forma ciężka | = en |
| cs | Epidermolysis bullosa simplex, Dowlingův-Mearův typ | Epidermolysis bullosa simplex, herpetiformis · Epidermolysis bullosa simplex, Dowling-Mearův typ |
| uk | Аутосомно-домінантний генералізований бульозний епідермоліз, тяжка форма | Аутосомно-домінантний генералізований БЕС, важка форма · Простий герпетиформний бульозний епідермоліз · Простий бульозний епідермоліз, тип Даулінга-Міара |
| zh | 单纯性大疱性表皮松解症，重度全身型 | 单纯型大疱性表皮松解症，Dowling-Meara型 |
| tr | Epidermolizis bülloza simpleks, ağır jeneralize | EBS, jeneralize ağır · Epidermolizis bülloza simpleks, herpetiformis · Epidermolizis bülloza simpleks, Dowling-Meara tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131760 | E | validated | |
| OMIM | 619555 | BTNT | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| UMLS | C0079295 | E | validated | |
| GARD | 2141 | 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:595346Epidermolysis bullosa simplex without extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
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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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
44 annotations · validated 2021-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0010783 | Erythema | |
| HP:0001030 | Fragile skin | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0001903 | Anemia | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs | |
| HP:0001075 | Atrophic scars | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0011968 | Feeding difficulties | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0007599 | Generalized reticulate brown pigmentation | |
| HP:0001510 | Growth delay | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001056 | Milia | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0001581 | Recurrent skin infections | |
| HP:0100699 | Scarring | |
| Occasional (29-5%) | ||
| HP:0005483 | Abnormal epiglottis morphology | |
| HP:0001600 | Abnormality of the larynx | |
| HP:0002780 | Bronchomalacia | |
| HP:0006934 | Congenital nystagmus | |
| HP:0007957 | Corneal opacity | |
| HP:0001363 | Craniosynostosis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001609 | Hoarse voice | |
| HP:0000540 | Hypermetropia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001601 | Laryngomalacia | |
| HP:0001805 | Onychogryphosis | |
| HP:0000613 | Photophobia | |
| HP:0002719 | Recurrent infections | |
| HP:0100806 | Sepsis | |
| HP:0010298 | Smooth tongue | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0006739 | Squamous cell carcinoma of the skin | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301543[PMID]_31772641[PMID]_30515866[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79396
- This record as JSON: /data/d/79396.json