ORPHA:412189
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Synonyms: EBS due to exophilin 5 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex due to exophilin 5 deficiency | EBS due to exophilin 5 deficiency |
| fr | Epidermolyse bulleuse simple par déficit en exophiline 5 | EBS par déficit en exophiline 5 |
| de | Epidermolysis bullosa simplex durch Exophilin 5-Mangel | EBS durch Exophilin 5-Defizienz |
| es | Epidermólisis ampollosa simple por deficiencia de exofilina 5 | EBS por deficiencia de exofilina 5 · Epidermólisis bullosa simple por deficiencia de exofilina 5 |
| it | Epidermolisi bollosa semplice da deficit di exofilina 5 | EBS da deficit di exofilina 5 |
| nl | Epidermolysis bullosa simplex door exofiline-5-deficiëntie | EBS door exofiline-5-deficiëntie |
| pt | Epidermólise bolhosa simples por deficiência de exofilina 5 | |
| pl | Postać prosta pęcherzowego oddzielania się naskórka spowodowana niedoborem egzofiliny 5 | = en |
| cs | Epidermolysis bullosa simplex způsobená deficitem exophilinu | EBS-AR exophilin 5 |
| uk | Простий бульозний епідермоліз, зумовлений дефіцитом екзофіліну 5 | ПБЕ внаслідок дефіциту екзофіліну 5 |
| zh | exophilin5缺陷导致的单纯型大疱性表皮松解 | EBS-AR 外泌素5 |
| tr | Ekzofilin 5 eksikliğine bağlı epidermolizis bülloza simpleks | EBS-AR eksofilin 5 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615028 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0014014 | E | validated | |
| UMLS | C4750918 | 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 |
|---|---|---|---|---|---|---|---|---|
| EXPH5 | Disease-causing germline mutation(s) in | Assessed | HGNC:30578 | ENSG00000110723 | 612878 | 11q22.3 | exophilin 5 | 23176819[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24690439[PMID]_23176819[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24690439[PMID]_23176819[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/412189
- This record as JSON: /data/d/412189.json