ORPHA:79402
Intermediate generalized junctional epidermolysis bullosa
Synonyms: Generalized atrophic benign epidermolysis bullosa · Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB · Junctional epidermolysis bullosa generalisata mitis · Junctional epidermolysis bullosa, Disentis type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate generalized junctional epidermolysis bullosa | Generalized atrophic benign epidermolysis bullosa · Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB · Junctional epidermolysis bullosa generalisata mitis · Junctional epidermolysis bullosa, Disentis type |
| fr | Epidermolyse bulleuse jonctionnelle généralisée, forme intermédiaire | EBJ généralisée intermédiaire · Epidermolyse bulleuse jonctionnelle généralisée atrophique · Epidermolyse bulleuse jonctionnelle généralisée type non-Herlitz · Epidermolyse bulleuse jonctionnelle type Disentis |
| de | Epidermolysis bullosa, junktionale, generalisierte intermediäre | Epidermolysis bullosa junctionalis generalisata mitis · Epidermolysis bullosa, atrophische benigne generalisierte · Epidermolysis bullosa, generalisierte junktionale, non-Herlitz Typ · Epidermolysis bullosa, junktionale, Typ Disentis · GABEB · JEB, generalisierte intermediäre · JEB-nH |
| es | Epidermólisis ampollosa juntural generalizada intermedia | Epidermólisis ampollosa generalizada atrófica benigna · Epidermólisis ampollosa juntural generalizada mitis · Epidermólisis ampollosa juntural generalizada tipo no Herlitz · Epidermólisis ampollosa juntural tipo Disentis · Epidermólisis bullosa juntural generalizada intermedia · GABEB · JEB generalizada intermedia |
| it | Epidermolisi bollosa giunzionale generalizzata intermedia | Epidermolisi bollosa benigna atrofica generalizzata · Epidermolisi bollosa giunzionale generalizzata mite · Epidermolisi bollosa giunzionale generalizzata mitis · Epidermolisi bollosa giunzionale generalizzata, tipo non-Herlitz · Epidermolisi bollosa giunzionale, tipo Disentis · JEB generalizzata intermedia |
| nl | Intermediaire gegeneraliseerde junctionele epidermolysis bullosa | Gegeneraliseerde atrofische goedaardige epidermolysis bullosa · Gegeneraliseerde junctionele epidermolysis bullosa, niet-Herlitz-type · Intermediaire gegeneraliseerde JEB · Junctionele epidermolysis bullosa generalisata mitis · Junctionele epidermolysis bullosa, Disentis-type |
| pt | Epidermólise bolhosa junctional generalizada intermédia | Epidermólise bolhosa benigna atrófica generalizada · Epidermólise bolhosa juncional generalizada, tipo não-Herlitz · Epidermólise bolhosa juncional, tipo Disentis · Epidermólise bolhosa junctional generalizada, tipo não-Herlitz |
| pl | Pęcherzowe oddzielanie się naskórka pośrednie graniczne | Pęcherzowe oddzielanie się naskórka postać łącząca, typ Disentis · Uogólnione zanikowe łagodne pęcherzowe oddzielanie się naskórka |
| cs | Generalizovaná junkční epidermolysis bullosa, non-Herlitzův typ | GABEB · Generalizovaná atrofická benigní epidermolysis bullosa · JEB-nH gen · Junkční epidermolysis bullosa generalisata mitis · Junkční epidermolysis bullosa, Disentisův typ |
| uk | Помірний генералізований межовий бульозний епідермоліз | Генералізований атрофічний доброякісний бульозний епідермоліз · Генералізований бульозний епідермоліз зєднання, не за типом Герліца · Проміжний узагальнений БЕЗ · Бульозний епідермоліз зєднання генералізований мітичний · Бульозний епідермоліз зєднання, тип Disentis |
| zh | 交界型大疱性表皮松解症，中间型 | 泛发性交界性大疱性表皮松解症，非Herlitz型 |
| tr | Junctional epidermolizis bülloza, orta jeneralize | GABEB · JEB-nH gen · JEB, jeneralize orta seviye · Kavşak epidermolizis bülloza, Disentis tipi · Jeneralize atrofik selim epidermolizis bülloza · Kavşak epidermolizis bülloza generalisata mitis · Jeneralize kavşak epidermolizis bülloza, Herlitz olmayan tip |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226650 | NTBT | validated | |
| OMIM | 619783 | BTNT | validated | |
| OMIM | 619785 | BTNT | validated | |
| OMIM | 619787 | BTNT | validated | |
| OMIM | 619816 | BTNT | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0019307 | E | validated | |
| UMLS | C0432326 | 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 (2):
- ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:89840OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type referred to · inactive
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL17A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2194 | ENSG00000065618 | 113811 | 10q25.1 | collagen type XVII alpha 1 chain | 20301304[PMID] |
| ITGB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6158 | ENSG00000132470 | 147557 | 17q25.1 | integrin subunit beta 4 | 10792571[PMID]_16473856[PMID]_20301304[PMID] |
| LAMA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6483 | ENSG00000053747 | 600805 | 18q11.2 | laminin subunit alpha 3 | 20301304[PMID] |
| LAMB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6490 | ENSG00000196878 | 150310 | 1q32.2 | laminin subunit beta 3 | 20301304[PMID] |
| LAMC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6493 | ENSG00000058085 | 150292 | 1q25.3 | laminin subunit gamma 2 | 20301304[PMID] |
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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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0001075 | Atrophic scars | |
| HP:0001056 | Milia | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0002231 | Sparse body hair | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001798 | Anonychia | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0006297 | Enamel hypoplasia | |
| HP:0001510 | Growth delay | |
| HP:0000982 | Palmoplantar keratoderma | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79402
- This record as JSON: /data/d/79402.json