ORPHA:312
Autosomal dominant epidermolytic ichthyosis
Synonyms: BCIE · Bullous congenital ichthyosiform erythroderma · Bullous congenital ichthyosiform erythroderma of Brock · Bullous ichthyosis · EHK · EI · Epidermolytic hyperkeratosis · Ichthyosis hystrix Brocq type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant epidermolytic ichthyosis | BCIE · Bullous congenital ichthyosiform erythroderma · Bullous congenital ichthyosiform erythroderma of Brock · Bullous ichthyosis · EHK · EI · Epidermolytic hyperkeratosis · Ichthyosis hystrix Brocq type |
| fr | Ichtyose épidermolytique autosomique dominante | BCIE · ECIB · EHK · EI · Erythrodermie congénitale ichtyosiforme bulleuse · Erythrodermie congénitale ichtyosiforme bulleuse de Brock · Hyperkératose épidermolytique |
| de | Ichthyose, epidermolytische, autosomal-dominante | BCIE · Bullöse kongenitale ichthyosiforme Erythrodermie Brocq · EHK · EI · Erythrodermie, ichthyosiforme kongenitale, bullöse Form · Hyperkeratose, epidermolytische · Ichthyose, bullöse · Ichthyosis hystrix Typ Brocq |
| es | Ictiosis epidermolítica autosómica dominante | Ictiosis bullosa · Ictiosis hystrix tipo Brocq · BCIE · EHK · EI · Eritrodermia ictiosiforme congénita ampollosa · Eritrodermia ictiosiforme congénita ampollosa de Brocq · Eritrodermia ictiosiforme congénita bullosa · Eritrodermia ictiosiforme congénita bullosa de Brocq · Hiperqueratosis epidermolítica · Ictiosis ampollosa |
| it | Ittiosi epidermolitica autosomica dominante | BCIE · EHK · EI · Eritroderma ittiosiforme bolloso congenit · Eritroderma ittiosiforme bolloso congenito di Brock · Ipercheratosi epidermolitica · Ittiosi bollosa |
| nl | Autosomaal dominante epidermolytische ichthyosis | BCIE · Bulleuze congenitale ichthyosiforme erytrodermie · Bulleuze congenitale ichthyosiforme erytrodermie van Brock · Bulleuze ichthyosis · EHK · EI · Epidermolytische hyperkeratose · Ichthyosis bullosa · Ichthyosis hystrix, Brocq-type |
| pt | Ictiose epidermolítica autossómica dominante | BCIE · Eritrodermia ictiosiforme bolhosa congénita · Eritrodermia ictiosiforme bolhosa congénita Brock · Hiperqueratose epidermolítica · Ictiose bolhosa |
| pl | Nadmierne rogowacenie epidermiolityczne | BCIE · EHK · EI · Hiperkeratoza epidermolityczna · Rybia łuska pęcherzowa · Wrodzona pęcherzowa erytrodermia ichtiotyczna · Wrodzona pęcherzowa erytrodermia ichtiotyczna Brocka |
| cs | Epidermolytická ichtyóza | BCIE · Erythrodermia ichthyosiformis congenita bullosa · Bulózní vrozená ichtyosiformní Brockova erytrodermie · Bulózní ichtyóza · EHK · EI · Epidermolytická hyperkeratóza |
| uk | Аутосомно-домінантний епідермолітичний іхтіоз | BCIE · Бульозна вроджена іхтіозиформна еритродермія · Бульозна вроджена іхтіозиформна еритродермія Брока · Бульозний іхтіоз · EHK · EI · Епідермолітичний гіперкератоз · Ichthyosis hystrix Brocq |
| zh | 常染色体显性遗传表皮松解性鱼鳞病 | Brock先天性大疱性鱼鳞病样红皮病 |
| tr | Otozomal dominant epidermolitik iktiyoz | EI · EHK · BCIE · Büllöz iktiyoz · Epidermolitik hiperkeratoz · İktiyoz histriksi Brocq tipi · Büllöz doğumsal iktiyoziform eritrodermi · Brock'un büllöz doğumsal iktiyoziform eritrodermisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113800 | BTNT | validated | |
| OMIM | 620150 | BTNT | validated | |
| ICD-10 | Q80.3 | E | specific | validated |
| ICD-11 | EC20.03 | NTBT | index | validated |
| MONDO | 0020702 | E | validated | |
| MONDO | 20702 | E | validated | |
| MeSH | D017488 | E | validated | |
| UMLS | C0079153 | E | validated | |
| GARD | 1039 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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 | 1380725[PMID]_7512983[PMID] |
| KRT10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6413 | ENSG00000186395 | 148080 | 17q21.2 | keratin 10 | 1380725[PMID]_7512983[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4317 / 100 000 | Japan | Value and class | Validated | 23182068[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.29 / 100 000 | Denmark | Value and class | Validated | 22930352[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.65 / 100 000 | United States | Value and class | Not yet validated | 8053700[PMID]_7692917[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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.
6
HPO phenotypes
11 annotations · validated 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0007475 | Congenital bullous ichthyosiform erythroderma | |
| HP:0001019 | Erythroderma | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008064 | Ichthyosis | |
| HP:0004396 | Poor appetite | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| Occasional (29-5%) | ||
| HP:0100780 | Conjunctival hamartoma | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0200042 | Skin ulcer | |
Run the differential on the 7 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/312
- This record as JSON: /data/d/312.json