ORPHA:79394
Congenital ichthyosiform erythroderma
Synonyms: CIE · Erythrodermic ichthyosis · Non-bullous congenital ichthyosiform erythroderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital ichthyosiform erythroderma | CIE · Erythrodermic ichthyosis · Non-bullous congenital ichthyosiform erythroderma |
| fr | Erythrodermie congénitale ichtyosiforme | CIE · Erythrodermie congénitale ichtyosiforme sèche · Ichtyose érythrodermique |
| de | Erythrodermie, ichthyosiforme kongenitale | CIE · Erythrodermie, ichthyosiforme kongenitale, nicht-bullöse Form · Ichthyose, erythrodermische |
| es | Eritrodermia ictiosiforme congénita | Ictiosis eritrodérmica · EIC · Eritrodermia ictiosiforme congénita no ampollosa |
| it | Eritroderma ittiosiforme congenito | CIE · Eritroderma ittiosiforme congenito non bolloso · Ittiosi eritrodermica |
| nl | Congenitale ichthyosiforme erytrodermie | CIE · Erytrodermische ichthyosis · Niet-bulleuze congenitale ichthyosiforme erytrodermie |
| pt | Eritrodermia ictiosiforme congénita | CIE · Eritrodermia ictiosiforme congénita não-bolhosa · Ictiose eritrodérmica |
| pl | Wrodzona niepęcherzowa erytrodermia ichtiotyczna | CIE · Wrodzona erytrodermia ichtiotyczna |
| cs | Vrozená non-bulózní ichtyoziformní erythroderma | CIE · Erytrodermická ichtyóza · Non-bulózní vrozená ichtyoziformní erythroderma |
| uk | Вроджена іхтіозиформна еритродермія | CIE · Еритродермічний іхтіоз · Небульозна вроджена іхтіозиформна еритродермія |
| zh | 先天性非大疱性鱼鳞病样红皮病 | 非大疱性先天性鱼鳞病样红皮病 |
| tr | Doğumsal büllöz olmayan iktiyozisiform eritroderma | CIE · Eritrodermik iktiyoz · Büllöz olmayan Doğumsal iktiyoziform eritrodermi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242100 | BTNT | validated | |
| OMIM | 606545 | BTNT | validated | |
| OMIM | 612281 | BTNT | validated | |
| OMIM | 615022 | BTNT | validated | |
| OMIM | 615023 | BTNT | validated | |
| OMIM | 615024 | BTNT | validated | |
| OMIM | 617574 | BTNT | validated | |
| ICD-10 | Q80.2 | NTBT | attributed | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0019306 | E | validated | |
| UMLS | C0079154 | 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:281097Autosomal recessive congenital ichthyosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCA12 | Disease-causing germline mutation(s) in | Assessed | HGNC:14637 | ENSG00000144452 | 607800 | 2q35 | ATP binding cassette subfamily A member 12 | 18284401[PMID]_19262603[PMID]_22257947[PMID] |
| ALOX12B | Disease-causing germline mutation(s) in | Assessed | HGNC:430 | ENSG00000179477 | 603741 | 17p13.1 | arachidonate 12-lipoxygenase, 12R type | 16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID] |
| ALOXE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13743 | ENSG00000179148 | 607206 | 17p13.1 | arachidonate epidermal lipoxygenase 3 | 12780701[PMID] |
| CERS3 | Disease-causing germline mutation(s) in | Assessed | HGNC:23752 | ENSG00000154227 | 615276 | 15q26.3 | ceramide synthase 3 | 23549421[PMID] |
| NIPAL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:28018 | ENSG00000172548 | 609383 | 5q33.3 | NIPA like domain containing 4 | 20016120[PMID] |
| PNPLA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21246 | ENSG00000180316 | 612121 | 6p21.31 | patatin like domain 1, omega-hydroxyceramide transacylase | 22246504[PMID] |
| SDR9C7 | Disease-causing germline mutation(s) in | Assessed | HGNC:29958 | ENSG00000170426 | 609769 | 12q13.3 | short chain dehydrogenase/reductase family 9C member 7 | 28906551[PMID] |
| SULT2B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11459 | ENSG00000088002 | 604125 | 19q13.33 | sulfotransferase family 2B member 1 | 28575648[PMID] |
| TGM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11777 | ENSG00000092295 | 190195 | 14q12 | transglutaminase 1 | 12780701[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Spain | Value and class | Validated | 22000705[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000656 | Ectropion | |
| HP:0001019 | Erythroderma | |
| HP:0000966 | Hypohidrosis | |
| HP:0008064 | Ichthyosis | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0001596 | Alopecia | |
| HP:0200020 | Corneal erosion | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| HP:0000491 | Keratitis | |
| HP:0000982 | Palmoplantar keratoderma | |
| Occasional (29-5%) | ||
| HP:0004322 | Short stature | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79394
- This record as JSON: /data/d/79394.json