ORPHA:455
Superficial epidermolytic ichthyosis
Synonyms: Ichthyosis bullosa of Siemens · SEI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Superficial epidermolytic ichthyosis | Ichthyosis bullosa of Siemens · SEI |
| fr | Ichtyose épidermolytique superficielle | Ichtyose bulleuse de Siemens · SEI |
| de | Ichthyose, epidermolytische superfizielle | Ichthyosis bullosa Siemens · SEI |
| es | Ictiosis epidermolítica superficial | Ictiosis ampollosa de Siemens · Ictiosis bullosa de Siemens · SEI |
| it | Ittiosi epidermolitica superficiale | Ittiosi bollosa di Siemens · SEI |
| nl | Oppervlakkige epidermolytische ichthyosis | Bulleuze ichthyosis van Siemens · Ichthyosis bullosa van Siemens · Ichthyosis exfoliativa · SEI |
| pt | Ictiose epidermolítica superficial | Ictiose bolhosa de Siemens · Ictiose exfoliativa |
| pl | Nadmierne rogowacenie epidermiolityczne powierzchowne | Rybia łuska pęcherzowa Siemensa · SEI |
| cs | Superficiální epidermolytická ichtyóza | Ichthyosis bullosa, typ Siemens · SEI |
| uk | Поверхневий епідермолітичний іхтіоз | Бульозний іхтіоз Сіменса · SEI |
| zh | 浅表表皮松解鱼鳞病 | Siemens大疱性鱼鳞病 |
| tr | Yüzeysel epidermolitik iktiyoz | SEI · Siemens iktiyoz bülloza |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146800 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.03 | NTBT | index | validated |
| MONDO | 0007813 | E | validated | |
| MeSH | D053560 | E | validated | |
| UMLS | C0432306 | E | validated | |
| GARD | 2966 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6439 | ENSG00000172867 | 600194 | 12q13.13 | keratin 2 | 15949009[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
7 annotations · validated 2017-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0100792 | Acantholysis | |
| HP:0000969 | Edema | |
| HP:0008064 | Ichthyosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0010783 | Erythema | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/455
- This record as JSON: /data/d/455.json