ORPHA:158687
Lethal acantholytic erosive disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal acantholytic erosive disorder | |
| fr | Maladie érosive acantholytique létale | |
| de | Epidermolysis bullosa, akantholytische letale | LAEB |
| es | Trastorno erosivo acantolítico letal | |
| it | Malattia erosiva acantolitica letale | LAEB |
| nl | Letale acantholytische erosieve aandoening | |
| pt | Doença erosiva acantolítica fatal | LAEB |
| pl | Zaburzenie nadżerkowe akantolityczne letalne | |
| cs | Letální akantolytická epidermolysis bullosa | LAEB |
| uk | Летальний акантолітичний ерозивний розлад | |
| zh | 大疱性皮肤松解，致死性皮肤棘层松解 | |
| tr | Letal akantolitik epidermolizis bülloza | LAEB |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609638 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0012323 | E | validated | |
| MeSH | C535493 | E | validated | |
| UMLS | C1864826 | E | validated | |
| GARD | 9910 | 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 (2):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSP | Disease-causing germline mutation(s) in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 16175511[PMID]_20302578[PMID] |
| JUP | Disease-causing germline mutation(s) in | Assessed | HGNC:6207 | ENSG00000173801 | 173325 | 17q21.2 | junction plakoglobin | 21320868[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 20613772[PMID]_20302578[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20613772[PMID]_20302578[PMID] |
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
27 annotations · validated 2021-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0032449 | Abnormal dermoepidermal hemidesmosome morphology | |
| HP:0031538 | Abnormal dermoepidermal junction morphology | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001817 | Absent fingernail | |
| HP:0002298 | Absent hair | |
| HP:0001802 | Absent toenail | |
| HP:0100792 | Acantholysis | |
| HP:0005597 | Congenital alopecia totalis | |
| HP:0001030 | Fragile skin | |
| HP:0031274 | Hypovolemic shock | |
| HP:0000695 | Natal tooth | |
| HP:0002878 | Respiratory failure | |
| Occasional (29-5%) | ||
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0006097 | 3-4 finger syndactyly | |
| HP:0010705 | 4-5 finger syndactyly | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0001640 | Cardiomegaly | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006670 | Impaired myocardial contractility | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001562 | Oligohydramnios | |
Annotation source: 20302578[PMID]_19945626[PMID]_28442525[PMID]_24738885[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158687
- This record as JSON: /data/d/158687.json