ORPHA:281139
Annular epidermolytic ichthyosis
Synonyms: AEI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Annular epidermolytic ichthyosis | AEI |
| fr | Ichtyose épidermolytique annulaire | = en |
| de | Ichthyose, anuläre epidermolytische | = en |
| es | Ictiosis epidermolítica anular | = en |
| it | Ittiosi epidermolitica anulare | = en |
| nl | Annulaire epidermolytische ichthyosis | AEI · Ringvormige epidermolytische ichthyosis |
| pt | Ictiose epidermolítica anular | = en |
| pl | Rybia łuska pierścieniowa epidermolityczna | = en |
| cs | Anulární epidermolytická ichtyóza | = en |
| uk | Кільцевий епідермолітичний іхтіоз | = en |
| zh | 环状表皮松解性鱼鳞病 | = en |
| tr | Anüler epidermolitik iktiyoz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607602 | BTNT | validated | |
| OMIM | 620148 | BTNT | validated | |
| ICD-10 | Q80.3 | NTBT | attributed | validated |
| ICD-11 | EC20.03 | NTBT | index | validated |
| MONDO | 0011870 | E | validated | |
| UMLS | C1843463 | 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:281103Keratinopathic ichthyosis
rare genetic diseases; rare skin diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 | 10053007[PMID] |
| KRT10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6413 | ENSG00000186395 | 148080 | 17q21.2 | keratin 10 | 9856845[PMID]_9036939[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 17596149[PMID]_14594577[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281139
- This record as JSON: /data/d/281139.json