ORPHA:79404
Severe generalized junctional epidermolysis bullosa
Synonyms: Epidermolysis bullosa letalis · JEB-H · Junctional epidermolysis bullosa generalisata gravis · Junctional epidermolysis bullosa, Herlitz type · Junctional epidermolysis bullosa, Herlitz-Pearson type · Severe generalized JEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe generalized junctional epidermolysis bullosa | Epidermolysis bullosa letalis · JEB-H · Junctional epidermolysis bullosa generalisata gravis · Junctional epidermolysis bullosa, Herlitz type · Junctional epidermolysis bullosa, Herlitz-Pearson type · Severe generalized JEB |
| fr | Epidermolyse bulleuse jonctionnelle généralisée sévère | EBJ généralisée sévère · EBJ-H · Epidermolyse bulleuse jonctionnelle létale · Epidermolyse bulleuse jonctionnelle type Herlitz · Epidermolyse bulleuse jonctionnelle type Herlitz-Pearson |
| de | Epidermolysis bullosa, junctionale, generalisierte schwere | Epidermolysis bullosa junctionalis generalisata gravis · Epidermolysis bullosa junctionalis, Herlitz · Epidermolysis bullosa junctionalis, Typ Herlitz-Pearson · Epidermolysis bullosa letalis · Epidermolysis bullosa, junktionale, Typ Herlitz · JEB, generalisierte schwere · JEB-H |
| es | Epidermólisis ampollosa juntural generalizada grave | Epidermólisis ampollosa juntural tipo Herlitz · Epidermólisis ampollosa juntural tipo Herlitz-Pearson · Epidermólisis ampollosa letal · Epidermólisis bullosa juntural generalizada grave · JEB generalizada grave |
| it | Epidermolisi bollosa giunzionale generalizzata grave | Epidermolisi bollosa giunzionale generalizzata gravis · Epidermolisi bollosa giunzionale, tipo Herlitz · Epidermolisi bollosa giunzionale, tipo Herlitz-Pearson · Epidermolisi bollosa letale · JEB generalizzata grave · JEB-H |
| nl | Ernstige gegeneraliseerde junctionele epidermolysis bullosa | Ernstige gegeneraliseerde JEB · JEB-H · Junctionele epidermolysis bullosa generalisata gravis · Junctionele epidermolysis bullosa, Herlitz-Pearson-type · Junctionele epidermolysis bullosa, Herlitz-type · Epidermolysis bullosa letalis |
| pt | Epidermólise bolhosa junctional generalizada grave | Epidermólise bolhosa juncional tipo Herlitz · Epidermólise bolhosa letal · JEB-H |
| pl | Pęcherzowe oddzielanie się naskórka ciężkie uogólnione graniczne | Pęcherzowe oddzielanie się naskórka łączące, typ Herlitz i Pearsona · Pęcherzowe oddzielanie się naskórka, postać śmiertelna |
| cs | Junkční epidermolysis bullosa, Herlitzův typ | Epidermolysis bullosa letalis · JEB-H · Junkční epidermolysis bullosa generalisata gravis · Junkční epidermolysis bullosa, Herlitzův-Pearsonův typ · Junkční epidermolysis bullosa, Herlitz-Pearsonův typ |
| uk | Важкий генералізований межовий бульозний епідермоліз | Бульозний епідермоліз летальний · БЕЗ-H · Генералізований бульозний епідермоліз зєднання (bullosa generalisata gravis) · Бульозний епідермоліз зєднання, тип Герліца · Бульозний епідермоліз зєднання, тип Герліца-Пірсона · Тяжкий генералізований БЕЗ |
| zh | 交界型大疱性表皮松解症，重度全身型 | 交界型大疱性表皮松解症，Herlitz-Pearson型 |
| tr | Junctional epidermolizis bülloza, ağır jeneralize | JEB-H · JEB, jeneralize ağır · Epidermolizis bülloza letalis · Kavşak epidermolizis bülloza, Herlitz tipi · Kavşak epidermolizis bülloza generalisata gravis · Kavşak epidermolizis bülloza, Herlitz-Pearson tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226700 | E | validated | |
| OMIM | 619786 | BTNT | validated | |
| ICD-10 | Q81.1 | E | specific | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0009182 | E | validated | |
| UMLS | C0079683 | 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 (4):
- ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| 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
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.17 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.04 / 100 000 | United States | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Netherlands | Value and class | Validated | 21801158[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Italy | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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
61 annotations · validated 2020-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0001030 | Fragile skin | |
| HP:0001510 | Growth delay | |
| HP:0020117 | Hypoplastic dermoepidermal hemidesmosomes | |
| HP:0001581 | Recurrent skin infections | |
| HP:0200041 | Skin erosion | |
| HP:0200035 | Skin plaque | |
| Frequent (79-30%) | ||
| HP:0001211 | Abnormal fingertip morphology | |
| HP:0001903 | Anemia | |
| HP:0001798 | Anonychia | |
| HP:0002094 | Dyspnea | |
| HP:0031446 | Erosion of oral mucosa | |
| HP:0001609 | Hoarse voice | |
| HP:0004395 | Malnutrition | |
| HP:0001818 | Paronychia | |
| HP:0010307 | Stridor | |
| Occasional (29-5%) | ||
| HP:0003111 | Abnormal blood ion concentration | |
| HP:0000481 | Abnormal cornea morphology | |
| HP:0000014 | Abnormality of the bladder | |
| HP:0002087 | Abnormality of the upper respiratory tract | |
| HP:0001596 | Alopecia | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0010476 | Aplasia/Hypoplasia of the bladder | |
| HP:0002019 | Constipation | |
| HP:0001944 | Dehydration | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0000081 | Duplicated collecting system | |
| HP:0100518 | Dysuria | |
| HP:0000969 | Edema | |
| HP:0002043 | Esophageal stricture | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0001615 | Hoarse cry | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0004057 | Mitten deformity | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0008404 | Nail dystrophy | |
| HP:0000939 | Osteoporosis | |
| HP:0002090 | Pneumonia | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000107 | Renal cyst | |
| HP:0008682 | Renal tubular epithelial necrosis | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0100806 | Sepsis | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0001955 | Unexplained fevers | |
| HP:0006000 | Ureteral obstruction | |
| HP:0000070 | Ureterocele | |
| HP:0012227 | Urethral stricture | |
| HP:0000016 | Urinary retention | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001662 | Bradycardia | |
| HP:0002107 | Pneumothorax | |
| HP:0000999 | Pyoderma | |
| HP:0001250 | Seizure | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301304[PMID]_27375110[PMID]_22512697[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79404
- This record as JSON: /data/d/79404.json