ORPHA:352662
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | |
| fr | Syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée | |
| de | Intraepitheliale korneale Dyskeratose-palmoplantare Hyperkeratose-laryngeale Dyskeratose-Syndrom | |
| es | Síndrome de disqueratosis intraepitelial corneal-hiperqueratosis palmoplantar-disqueratosis laríngea | |
| it | Sindrome da discheratosi intraepiteliale corneale, ipercheratosi palmoplantare e discheratosi laringea | |
| nl | Corneale intra-epitheliale dyskeratose - palmoplantaire hyperkeratose - laryngeale dyskeratose-syndroom | |
| pt | Disqueratose intraepitelial da córnea com hiperqueratose palmoplantar e disqueratose laríngea | |
| pl | Zespół dyzkeratozy wewnątrznabłonkowej rogówki z hiperkeratozą dłoniowo-podeszwową i dyzkeratozą gardła | |
| cs | Syndrom zahrnující intraepiteliální dyskeratózu rohovky, palmoplantární hyperkeratózu a dyskeratózu hrtanu | |
| uk | Синдром інтраепітеліального дискератозу рогівки-долонно-підошовного гіперкератозу- дискератозу гортані | |
| zh | 角膜上皮化-掌跖角化过度-喉角化不良综合征 | |
| tr | Korneal intraepitelyal diskeratoz-palmoplantar hiperkeratoz-laringeal diskeratoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615225 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | 9B6Y | NTBT | attributed | validated |
| MONDO | 0014089 | E | validated | |
| UMLS | C4751001 | 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 (3):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14374 | ENSG00000091592 | 606636 | 17p13 | NLR family pyrin domain containing 1 | 23349227[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 23349227[PMID]_27662089[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET__27662089[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/352662
- This record as JSON: /data/d/352662.json