ORPHA:89842
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Synonyms: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis · Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type · Generalized RDEB, intermediate form · RDEB, non-Hallopeau-Siemens type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis · Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type · Generalized RDEB, intermediate form · RDEB, non-Hallopeau-Siemens type |
| fr | Epidermolyse bulleuse dystrophique généralisée autosomique récessive, forme intermédiaire | EBDR généralisée, forme intermédiaire · EBDR type non-Hallopeau-Siemens · Epidermolyse bulleuse dystrophique autosomique récessive type non-Hallopeau-Siemens |
| de | Epidermolysis bullosa, dystrophe, generalisierte, autosomal-rezessive, intermediäre Form | Epidermolysis bullosa, dystrophe, rezessive, non-Hallopeau-Siemens Typ · RDEB Typ non-Hallopeau-Siemens · RDEB generalisata mitis · RDEB, generalisiert intermediär |
| es | Epidermólisis ampollosa distrófica generalizada intermedia autosómica recesiva | Epidermólisis ampollosa distrófica autosómica recesiva tipo no Hallopeau-Siemens · Epidermólisis ampollosa distrófica generalizada mitis autosómica recesiva · Epidermólisis bullosa distrófica generalizada intermedia autosómica recesiva · RDEB generalizada forma intermedia · RDEB tipo no Hallopeau-Siemens |
| it | Epidermolisi bollosa distrofica generalizzata autosomica recessiva, forma intermedia | Epidermolisi bollosa distrofica generalizzata mite autosomica recessiva · Epidermolisi bollosa distrofica recessiva, tipo non-Hallopeau-Siemens · RDEB generalizzata, forma intermedia · RDEB, tipo non-Hallopeau-Siemens |
| nl | Autosomaal recessieve gegeneraliseerde dystrofische epidermolysis bullosa, intermediaire vorm | Autosomaal recessieve dystrofische epidermolysis bullosa generalisata mitis · Autosomaal recessieve dystrofische epidermolysis bullosa, niet-Hallopeau-Siemens-type · Gegeneraliseerde RDEB, intermediaire vorm · RDEB, niet-Hallopeau-Siemens-type |
| pt | Epidermólise bolhosa distrófica generalizada autossómica recessiva, forma intermédia | |
| pl | Autosomalne recesywne uogólnione oddzielanie się naskórka, forma pośrednia | Autosomalne recesywne dystroficzna pęcherzowe oddzielanie naskórka, uogólnione inne · Autosomalne recesywne dystroficzne pęcherzowe oddzielanie naskórka, pośrednie · Recesywne pęcherzowe oddzielanie się naskórka, postać dystroficzna typu non-Hallopeau i Siemensa |
| cs | Recesivní dystrofická epidermolysis bullosa-generalizovaná jiná | Generalizovaná mitis RDEB · RDEB generalisata mitis · RDEB-O · RDEB-generalizovaná · Autozomálně recesivní dystrofická epidermolysis bullosa generalisata mitis · Autozomálně recesivní dystrofická epidermolysis bullosa, generalizovaná · RDEB, non-Hallopeauův-Siemensův typ · Recesivní dystrofická epidermolysis bullosa, non-Hallopeauův-Siemensův typ · RDEB, non-Hallopeau-Siemensův typ · Recesivní dystrofická epidermolysis bullosa, non-Hallopeau-Siemensův typ |
| uk | Аутосомно-рецесивний генералізований дистрофічний бульозний епідермоліз, помірно виражена форма | Аутосомно-рецесивний дистрофічний бульозний епідермоліз (bullosa generalisata mitis) · Аутосомно-рецесивний дистрофічний бульозний епідермоліз, не тип Галлопо-Сіменса · Узагальнена РДБЕ, проміжна форма · РДБЕ, не типу Галлопа-Сіменса |
| zh | 隐性营养不良型大疱性表皮松解症，全身型中间型 | 泛发性常染色体隐性遗传性营养不良型大疱性表皮松解症 |
| tr | Resesif distrofik epidermolizis bülloza, orta jeneralize | RDEB-O · Jeneralize mitis RDEB · RDEB-jeneralize diğer · RDEB generalisata mitis · RDEB, jeneralize ara · RDEB, Hallopeau olmayan Siemens tipi · Çekinik distrofik epidermolizis bülloza-jeneralize diğer · Çekinik distrofik epidermolizis bülloza, Hallopeau-Siemens tipi olmayan · Otozomal çekinik distrofik epidermolizis bülloza generalisata mitis · Otozomal çekinik distrofik epidermolizis bülloza, jeneralize diğer |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| UMLS | C4511044 | E | validated | |
| GARD | 12794 | 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 (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.
Codes that Orphanet moved or referred to this one:
- ORPHA:89841OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa referred to · inactive
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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
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
46 annotations · validated 2020-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0031903 | Abnormal circulating selenium concentration | |
| HP:0001903 | Anemia | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0004325 | Decreased body weight | |
| HP:0001030 | Fragile skin | |
| HP:0001510 | Growth delay | |
| Frequent (79-30%) | ||
| HP:0002031 | Abnormal esophagus morphology | |
| HP:0000670 | Carious teeth | |
| HP:0032676 | Chronic cutaneous wound | |
| HP:0002019 | Constipation | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0040303 | Decreased serum iron | |
| HP:0031831 | Decreased serum zinc | |
| HP:0002015 | Dysphagia | |
| HP:0010450 | Esophageal stenosis | |
| HP:0002043 | Esophageal stricture | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0004395 | Malnutrition | |
| HP:0001056 | Milia | |
| HP:0001581 | Recurrent skin infections | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200041 | Skin erosion | |
| Occasional (29-5%) | ||
| HP:0001802 | Absent toenail | |
| HP:0012390 | Anal fissure | |
| HP:0010296 | Ankyloglossia | |
| HP:0001798 | Anonychia | |
| HP:0000739 | Anxiety | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0200020 | Corneal erosion | |
| HP:0000823 | Delayed puberty | |
| HP:0000716 | Depression | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001371 | Flexion contracture | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0004057 | Mitten deformity | |
| HP:0002164 | Nail dysplasia | |
| HP:0000160 | Narrow mouth | |
| HP:0003764 | Nevus | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31487386[PMID]_20301481[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89842
- This record as JSON: /data/d/89842.json