ORPHA:512103
Autosomal recessive epidermolytic ichthyosis
Synonyms: AREI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive epidermolytic ichthyosis | AREI |
| fr | Ichtyose épidermolytique autosomique récessive | = en |
| de | Ichthyose, epidermolytische, autosomal-rezessive | = en |
| es | Ictiosis epidermolítica autosómica recesiva | = en |
| it | Ittiosi epidermolitica autosomica recessiva | = en |
| nl | Autosomaal recessieve epidermolytische ichthyosis | = en |
| pt | Ictiose epidermolítica autossómica recessiva | |
| pl | Autosomalna recesywna rybia łuska epidermolityczna | = en |
| cs | Autozomálně recesivní epidermolytická ichtyóza | = en |
| uk | Аутосомно-рецесивний епідермолітичний іхтіоз | = en |
| zh | 常染色体隐性表皮松解性鱼鳞病 | = en |
| tr | Otozomal resesif epidermolitik iktiyoz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620707 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.03 | NTBT | index | validated |
| MONDO | 0044742 | E | validated | |
| UMLS | C5437635 | 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 |
|---|---|---|---|---|---|---|---|---|
| KRT10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6413 | ENSG00000186395 | 148080 | 17q21.2 | keratin 10 | 21271994[PMID]_23957016[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/512103
- This record as JSON: /data/d/512103.json