ORPHA:281190
Congenital reticular ichthyosiform erythroderma
Synonyms: CRIE · IWC · Ichthyosis variegata · Ichthyosis with confetti
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital reticular ichthyosiform erythroderma | CRIE · IWC · Ichthyosis variegata · Ichthyosis with confetti |
| fr | Erythrodermie congénitale ichtyosiforme réticulaire | IWC · Ichtyose en confettis · Ichtyose variegata · CRIE |
| de | Erythrodermie, ichthyosiforme retikuläre, kongenitale Form | CRIE · IWC · Ichthyosis variegata · Konfetti-Ichthyose |
| es | Eritrodermia ictiosiforme reticular congénita | CRIE · IWC · Ictiosis en confeti · Ictiosis variegata |
| it | Eritroderma ittiosiforme reticolare congenito | CRIE · IWC · Ittiosi in confetti · Ittiosi variegata |
| nl | Congenitale reticulaire ichthyosiforme erytrodermie | CRIE · IWC · Ichthyosis met confetti · Ichthyosis variegata |
| pt | Eritrodermia ictiosiforme reticular congénita | CRIE · IWC · Ichthyosis variegata · Ictiose em confeti |
| pl | Wrodzona erytrodermia rybiołuskowata siatkowata | CRIE · IWC · Rybia łuska pstra · Rybia łuska z konfetti |
| cs | Vrozená retikulární ichtyoziformní erytrodermie | CRIE · IWC · Ichthyosis variegata · Ichtyóza s konfetami |
| uk | Вроджена ретикулярна іхтіозиформна еритродермія | КРІ · Ichthyosis variegata · Іхтіоз з конфетті · IWC |
| zh | 先天性网状鱼鳞状红皮病 | 鱼鳞病伴多色皮屑 |
| tr | Doğumsal retiküler iktiyozisiform eritrodermi | IWC · CRIE · İktiyoz variegata · Konfeti ile seyreden iktiyoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609165 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.0Y | NTBT | index | validated |
| MONDO | 0012208 | E | validated | |
| UMLS | C3665704 | 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.
4
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 | 25774499[PMID] |
| KRT10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6413 | ENSG00000186395 | 148080 | 17q21.2 | keratin 10 | 20798280[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 26381864[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26381864[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
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/281190
- This record as JSON: /data/d/281190.json