ORPHA:89843
Dystrophic epidermolysis bullosa pruriginosa
Synonyms: DEB pruriginosa · DEB-Pr · Pruriginous dystrophic epidermolysis bullosa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystrophic epidermolysis bullosa pruriginosa | DEB pruriginosa · DEB-Pr · Pruriginous dystrophic epidermolysis bullosa |
| fr | Epidermolyse bulleuse dystrophique prurigineuse | EBD prurigineuse |
| de | Epidermolysis bullosa, dystrophe pruriginöse | DEB-Pr · Pruriginöse DEB |
| es | Epidermólisis ampollosa distrófica pruriginosa | DEB pruriginosa · Epidermólisis bullosa distrófica pruriginosa |
| it | Epidermolisi bollosa pruriginosa distrofica | DEB pruriginosa · DEB-Pr · Epidermolisi bollosa distrofica pruriginosa |
| nl | Dystrofische epidermolysis bullosa pruriginosa | DEB pruriginosa · DEB-Pr · Prurigineuze dystrofische epidermolysis bullosa |
| pt | Epidermólise bolhosa pruriginosa distrófica | |
| pl | Pęcherzowe dystroficzne oddzielanie się naskórka, postać ze świądem | = en |
| cs | Dystrofická epidermolysis bullosa pruriginosa | DEB pruriginosa · DEB-Pr · Pruriginózní dystrofická epidermolysis bullosa |
| uk | Дистрофічний бульозний епідермоліз пруригінозний | ДБЕ pruriginosa · ДБЕ-Pr · Пруригінозний дистрофічний бульозний епідермоліз |
| zh | 痒疹样营养不良型大疱性表皮松解症 | 痒疹样营养不良型大疱性表皮松解症 |
| tr | Distrofik epidermolizis bülloza pruriginoza | DEB-Pr · DEB, pruriginosa · Prurijinöz distrofik epidermolizis bülloza |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604129 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | BTNT | index | validated |
| MONDO | 0011398 | E | validated | |
| MeSH | C563192 | E | validated | |
| UMLS | C1275114 | 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 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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
20 annotations · validated 2020-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0009811 | Abnormality of the elbow | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0100725 | Lichenification | |
| HP:0008404 | Nail dystrophy | |
| HP:0012221 | Pretibial blistering | |
| HP:0200035 | Skin plaque | |
| Occasional (29-5%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000152 | Abnormality of head or neck | |
| HP:0002973 | Abnormality of the forearm | |
| HP:0001075 | Atrophic scars | |
| HP:0004334 | Dermal atrophy | |
| HP:0000962 | Hyperkeratosis | |
| HP:0003341 | Junctional split | |
| HP:0001056 | Milia | |
| HP:0200034 | Papule | |
| HP:0100699 | Scarring | |
| HP:0001482 | Subcutaneous nodule | |
| Very rare (<4-1%) | ||
| HP:0003212 | Increased circulating IgE concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16965329[PMID]_25690953[PMID]_25694436[PMID]_20301481[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89843
- This record as JSON: /data/d/89843.json