Localized dystrophic epidermolysis bullosa
Synonyms: Localized DEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized dystrophic epidermolysis bullosa | Localized DEB |
| fr | Epidermolyse bulleuse dystrophique localisée | EBD localisée |
| de | Epidermolysis bullosa, dystrophe lokalisierte | DEB, lokalisierte |
| es | Epidermólisis ampollosa distrófica localizada | EAD localizada |
| it | Epidermolisi bollosa distrofica localizzata | DEB localizzata |
| nl | Gelokaliseerde dystrofische epidermolysis bullosa | Gelokaliseerde DEB |
| pt | Epidermólise bolhosa distrófica localizada | DEB localizada |
| pl | Pęcherzowe oddzielanie się naskórka dystroficzne, postać zlokalizowana | = en |
| cs | Lokalizovaná dystrofická epidermolysis bullosa | = en |
| uk | Локалізований дистрофічний бульозний епідермоліз | Локалізований ДЕБ |
| zh | Localized dystrophic epidermolysis bullosa | = en |
| tr | Localized dystrophic epidermolysis bullosa | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131850 | BTNT | validated | |
| OMIM | 607523 | BTNT | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | attributed | validated |
| MONDO | 0035349 | E | validated | |
| UMLS | C0474885 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| COL7A1 | ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain | |
| COL7A1 | ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain | |
| COL7A1 | ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 32017015[PMID]_ORPHANET |
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | 32017015[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/595356
- This record as JSON: /data/d/595356.json