Harlequin ichthyosis
Synonyms: Autosomal congenital ichthyosis, Harlequin type · HI · Ichthyosis congenita, Harlequin type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Harlequin ichthyosis | Autosomal congenital ichthyosis, Harlequin type · HI · Ichthyosis congenita, Harlequin type |
| fr | Ichtyose harlequin | HI · Ichtyose arlequin · Ichtyose congénitale autosomale, type arlequin |
| de | Harlekin-Ichthyose | HI · Ichthyose, kongenitale, Typ Harlequin · Ichthyosis congenita vom Harlequin Typ · Ichthyosis fetalis vom Harlekin Typ |
| es | Ictiosis arlequín | Ictiosis congénita autosómica tipo arlequín · Ictiosis congénita tipo arlequín |
| it | Ittiosi Arlecchino | HI · Ittiosi congenita autosomica tipo Arlecchino · Ittiosi congenita tipo Arlecchino |
| nl | Harlekijnichthyosis | Autosomale congenitale ichthyosis, Harlekijn-type · HI · Ichthyosis congenita, Harlekijn-type |
| pt | Ictiose Harlequim | HI · Ictiose congénita autossómica, tipo Harlequim · Ictiose congénita, tipo Harlequim |
| pl | Rybia łuska arlekinowa | Rybia łuska płodowa, typu harlekin · Rybia łuska wrodzona, typu harlekin |
| cs | Harlequin ichthyosis | HI · Vrozená ichthyóza, typ harlekýn · Fetální ichtyóza, typ harlekýn · Plod harlekýn |
| uk | Іхтіоз Арлекіна | Аутосомний вроджений іхтіоз, тип Арлекін · HI · Вроджений іхтіоз, тип Арлекін |
| zh | 花斑眼镜蛇样鱼鳞病 | 先天性鱼鳞病Harlequin型 |
| tr | Harlequin iktiyoz | HI · İktiyoz fetalis, Harlequin tipi · İktiyoz konjenita, Harlequin tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242500 | E | validated | |
| ICD-10 | Q80.4 | E | specific | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0009443 | E | validated | |
| MeSH | C538424 | E | validated | |
| UMLS | C0239849 | E | validated | |
| GARD | 6568 | E | validated | |
| MedDRA | 10019163 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 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 | 20301593[PMID]_19179616[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24920541[PMID] |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 24920541[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.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007431 | Congenital ichthyosiform erythroderma | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000656 | Ectropion | |
| HP:0000364 | Hearing abnormality | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008064 | Ichthyosis | |
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0012472 | Eclabion | |
| HP:0001019 | Erythroderma | |
| HP:0001376 | Limitation of joint mobility | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0001944 | Dehydration | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100716 | Self-injurious behavior | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457
- This record as JSON: /data/d/457.json