ORPHA:412181
Epidermolysis bullosa simplex due to BP230 deficiency
Synonyms: DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex due to BP230 deficiency | DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency |
| fr | Epidermolyse bulleuse simple par déficit en BP230 | EBS par déficit en BP230 · Epidermolyse bulleuse simple associée à DST |
| de | Epidermolysis bullosa simplex durch BP230-Mangel | EBS durch BP230-Defizienz · Epidermolysis bullosa simplex, DST-assoziierte |
| es | Epidermólisis ampollosa simple por deficiencia de BP230 | EBS por deficiencia de BP230 · Epidermólisis ampollosa simple asociada a DST · Epidermólisis bullosa simple por deficiencia de BP230 |
| it | Epidermolisi bollosa semplice da deficit di BP230 | EBS da deficit di BP230 · Epidermolisi bollosa semplice DST-correlata |
| nl | Epidermolysis bullosa simplex door BP230-deficiëntie | DST-gerelateerde epidermolysis bullosa simplex · EBS door BP230-deficiëntie |
| pt | Epidermólise bolhosa simples por deficiência BP230 | |
| pl | Postać prosta pęcherzowego oddzielania się naskórka spowodowana niedoborem BP230 | Postać prosta pęcherzowego oddzielania się naskórka związana z DST |
| cs | Epidermolysis bullosa simplex způsobená deficitem BP230 | DST-vázaná epidermolysis bullosa simplex · EBS-AR BP230 |
| uk | Простий бульозний епідермоліз, зумовлений дефіцитом BP230 | Простий бульозний епідермоліз, повязаний з ДСТ · ПБЕ через дефіцит BP230 |
| zh | BP230缺陷所致单纯型大疱性表皮松解 | 与DST相关的表皮松解性大疱 |
| tr | BP230 eksikliğine bağlı epidermolizis bülloza simpleks | EBS-AR BP230 · DST-ilişkili epidermolizis bülloza simpleks |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615425 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0014180 | E | validated | |
| UMLS | C4750917 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DST | Disease-causing germline mutation(s) in | Assessed | HGNC:1090 | ENSG00000151914 | 113810 | 6p12.1 | dystonin | 22113475[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 20164846[PMID]_22113475[PMID]_24690439[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20164846[PMID]_22113475[PMID]_24690439[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412181
- This record as JSON: /data/d/412181.json