ORPHA:79409
Recessive dystrophic epidermolysis bullosa inversa
Synonyms: RDEB inversa · RDEB-I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recessive dystrophic epidermolysis bullosa inversa | RDEB inversa · RDEB-I |
| fr | Epidermolyse bulleuse dystrophique inversée autosomique récessive | EBDR inversée |
| de | Epidermolysis bullosa inversa, dystrophe, rezessive | Inverse rezessive DEB · Inverse rezessive dystrophe Epidermolysis bullosa · RDEB inversa · RDEB-I |
| es | Epidermólisis ampollosa distrófica invertida recesiva | Epidermólisis ampollosa distrófica invertida autosómica recesiva · Epidermólisis bullosa distrófica invertida recesiva · RDEB invertida |
| it | Epidermolisi bollosa inversa distrofica recessiva | Epidermolisi bollosa distrofica recessiva inversa · Epidermolisi bollosa inversa distrofica autosomica recessiva · RDEB inversa · RDEB-I |
| nl | Recessieve dystrofische epidermolysis bullosa inversa | = en |
| pt | Epidermólise bolhosa distrófica recessiva inversa | RDEB-I |
| pl | Pęcherzowe oddzielanie się naskórka dystroficzne odwrócone | Dystroficzne pęcherzowe oddzielanie się naskórka odwrócone · Odwrócone recesywne dystroficzne pęcherzowe oddzielanie się naskórka |
| cs | Recesivní dystrofická epidermolysis bullosa inversa | Dystrofická epidermolysis bullosa inversa · Inverzní RDEB · Inverzní recesivní dystrofická epidermolysis bullosa · RDEB-I |
| uk | Рецесивний дистрофічний бульозний епідермоліз інверсний | РДБЕ inversa · РДБЕ-I |
| zh | 隐性营养不良性大疱性表皮松解症，相反型 | 反向性隐性营养不良性大疱性表皮松解症 |
| tr | Resesif distrofik epidermolizis bülloza inversa | RDEB-I · Ters RDEB · Distrofik epidermolizis bülloza inversa · Ters Çekinik distrofik epidermolizis bülloza |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226600 | NTBT | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| MONDO | 0019310 | E | validated | |
| UMLS | C1275113 | 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:303Dystrophic epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL7A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
28 annotations · validated 2020-06-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001030 | Fragile skin | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001798 | Anonychia | |
| HP:0001075 | Atrophic scars | |
| HP:0000670 | Carious teeth | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0031464 | Genital blistering | |
| HP:0011355 | Localized skin lesion | |
| HP:0001056 | Milia | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0002043 | Esophageal stricture | |
| HP:0001510 | Growth delay | |
| HP:0004057 | Mitten deformity | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0012227 | Urethral stricture | |
| HP:0025416 | Vaginal stricture | |
| Excluded (0%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24690439[PMID]_20301481[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79409
- This record as JSON: /data/d/79409.json