ORPHA:79408
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Synonyms: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · Generalized RDEB, severe form · RDEB generalisata gravis · RDEB, Hallopeau-Siemens type · Severe generalized RDEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · Generalized RDEB, severe form · RDEB generalisata gravis · RDEB, Hallopeau-Siemens type · Severe generalized RDEB |
| fr | Epidermolyse bulleuse dystrophique généralisée autosomique récessive, forme sévère | EBDR généralisée, forme sévère · EBDR type Hallopeau-Siemens · Epidermolyse bulleuse dystrophique autosomique récessive type Hallopeau-Siemens |
| de | Epidermolysis bullosa, dystrophe, generalisierte schwere, autosomal-rezessive | Epidermolysis bullosa generalisata gravis, dystrophe, autosomal-rezessive Form · Epidermolysis bullosa, dystrophe, autosomal-rezessive, Typ Hallopeau-Siemens · RDEB Typ Hallopeau-Siemens · RDEB generalisata gravis · RDEB, generalisierte schwere · Schwere generalisierte rezessive DEB |
| es | Epidermólisis ampollosa distrófica generalizada grave autosómica recesiva | Epidermólisis ampollosa distrófica autosómica recesiva tipo Hallopeau-Siemens · Epidermólisis bullosa distrófica generalizada grave autosómica recesiva · RDEB generalizada grave · RDEB, tipo Hallopeau-Siemens |
| it | Epidermolisi bollosa distrofica generalizzata autosomica recessiva, forma grave | Epidermolisi bollosa distrofica autosomica recessiva, tipo Hallopeau-Siemens · Epidermolisi bollosa distrofica recessiva generalizzata grave · RDEB generalizzata grave · RDEB generalizzata gravis · RDEB generalizzata, forma grave · RDEB, tipo Hallopeau-Siemens |
| nl | Autosomaal recessieve gegeneraliseerde dystrofische epidermolysis bullosa, ernstige vorm | Autosomaal recessieve dystrofische epidermolysis bullosa generalisata gravis · Autosomaal recessieve dystrofische epidermolysis bullosa, Hallopeau-Siemens-type · Ernstige gegeneraliseerde RDEB · Gegeneraliseerde RDEB, ernstige vorm · RDEB generalisata gravis · RDEB, Hallopeau-Siemens-type |
| pt | Epidermólise bolhosa distrófica generalizada autossómica recessiva, forma grave | Epidermólise bolhosa distrófica, autossómica recessiva, tipo Hallopeau-Siemens |
| pl | Pęcherzowe oddzielanie się naskórka uogólnione dystroficzne autosomalne recesywne, forma ciężka | Autosomalne recesywne pęcherzowe oddzielanie się naskórka, typ Hallopeau i Siemensa · Ciężkie uogólnione recesywne pęcherzowe oddzielanie się naskórka |
| cs | Těžká generalizovaná recesivní dystrofická epidermolysis bullosa | RDEB generalizata gravis · RDEB-sev gen · Autozomálně recesivní epidermolysis bullosa generalisata gravis · Autozomálně recesivní dystrofická epidermolysis bullosa, Hallopeauův-Siemensův typ · RDEB, Hallopeauův-Siemensův typ · Těžká generalizovaná RDEB · Autozomálně recesivní dystrofická epidermolysis bullosa, Hallopeau-Siemensův typ · RDEB, Hallopeau-Siemensův typ |
| uk | Аутосомно-рецесивний дистрофічний бульозний епідермоліз, важкий | Аутосомно-рецесивний дистрофічний бульозний епідермоліз (bullosa generalisata gravis) · Аутосомно-рецесивний дистрофічний бульозний епідермоліз, тип Халлопо-Сіменса · Генералізований РДБЕ, важка форма · РДБЕ generalisata gravis · РДБЕ, тип Халлопо-Сіменса · Тяжкий генералізований РДБЕ |
| zh | 重度全身性隐性营养不良性大疱性表皮松解症 | 常染色体隐性遗传性营养不良性大疱性表皮松解症，Hallopeau-Siemens型 |
| tr | Ağır jeneralize resesif distrofik epidermolizis bülloza | RDEB-sev gen · Ağır jeneralize RDEB · RDEB generalisata gravis · RDEB, Hallopeau-Siemens tipi · Otozomal Çekinik distrofik epidermoliz bülloza generalisata gravis · Otozomal Çekinik distrofik epidermoliz bülloza, Hallopeau-Siemens tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226600 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| MONDO | 0009179 | E | validated | |
| UMLS | C4510043 | E | validated | |
| GARD | 6308 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:303Dystrophic epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare transplant-related disorders - ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic diseases
No children.
4
Genes
2 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 | |
| MMP1 | Modifying germline mutation in | Not yet assessed | HGNC:7155 | ENSG00000196611 | 120353 | 11q22.2 | matrix metallopeptidase 1 |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | United States | Value and class | Validated | 31920360[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Europe | Value and class | Validated | 31920360[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.963 / 100 000 | Europe | Value and class | Validated | 31920360[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.2222 / 100 000 | United States | Value and class | Validated | 31920360[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.
6
HPO phenotypes
58 annotations · validated 2020-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001903 | Anemia | |
| HP:0001075 | Atrophic scars | |
| HP:0000670 | Carious teeth | |
| HP:0012532 | Chronic pain | |
| HP:0001371 | Flexion contracture | |
| HP:0001030 | Fragile skin | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0001510 | Growth delay | |
| HP:0001056 | Milia | |
| HP:0004057 | Mitten deformity | |
| HP:0200097 | Oral mucosal blisters | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0001798 | Anonychia | |
| HP:0000739 | Anxiety | |
| HP:0032676 | Chronic cutaneous wound | |
| HP:0000716 | Depression | |
| HP:0031446 | Erosion of oral mucosa | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0008404 | Nail dystrophy | |
| HP:0002860 | Squamous cell carcinoma | |
| Occasional (29-5%) | ||
| HP:0031903 | Abnormal circulating selenium concentration | |
| HP:0100508 | Abnormality of vitamin metabolism | |
| HP:0012390 | Anal fissure | |
| HP:0010296 | Ankyloglossia | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0012622 | Chronic kidney disease | |
| HP:0200020 | Corneal erosion | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0011936 | Decreased plasma total carnitine | |
| HP:0031831 | Decreased serum zinc | |
| HP:0000823 | Delayed puberty | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0004791 | Esophageal ulceration | |
| HP:0008366 | Foot joint contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000099 | Glomerulonephritis | |
| HP:0000794 | IgA deposition in the glomerulus | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0004395 | Malnutrition | |
| HP:0000160 | Narrow mouth | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0001581 | Recurrent skin infections | |
| HP:0001917 | Renal amyloidosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0012227 | Urethral stricture | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0031464 | Genital blistering | |
| Excluded (0%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000982 | Palmoplantar keratoderma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24690439[PMID]_20301481[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79408
- This record as JSON: /data/d/79408.json