Hereditary benign intraepithelial dyskeratosis
Synonyms: HBID · Hereditary benign corneal intraepithelial dyskeratosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary benign intraepithelial dyskeratosis | HBID · Hereditary benign corneal intraepithelial dyskeratosis |
| fr | Dyskératose intraépithéliale héréditaire bénigne | Dyskératose intraépithéliale cornéenne héréditaire bénigne · HBID |
| de | Hereditäre benigne intraepitheliale Dyskeratose | HBID |
| es | Disqueratosis intraepitelial benigna hereditaria | Disqueratosis intraepitelial corneal benigna hereditaria · HBID |
| it | Discheratosi intraepiteliale benigna ereditaria | Discheratosi intraepiteliale corneale benigna ereditaria · HBID |
| nl | Hereditaire benigne intra-epitheliale dyskeratose | Erfelijke goedaardige corneale intra-epitheliale dyskeratose · HBID |
| pt | Disqueratose intraepitelial da córnea, hereditária e benigna | |
| pl | Dziedziczna łagodna dyzkeratoza wewnątrznabłonkowa | Dziedziczna łagodna dyzkeratoza wewnątrznabłonkowa rogówki · HBID |
| cs | Dědičná benigní intraepiteliální dyskeratóza | HBID · Dědičná benigní intraepiteliální dyskeratóza rohovky |
| uk | Спадковий доброякісний інтраепітеліальний дискератоз | HBID · Спадковий доброякісний інтраепітеліальний дискератоз рогівки |
| zh | 遗传性良性上皮内角化不良 | 遗传性良性上皮角膜内角化不良 |
| tr | Kalıtsal selim intraepitelyal diskeratoz | HBID · Kalıtsal selim korneal intraepitelyal diskeratoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127600 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | DA02.0 | NTBT | index | validated |
| MONDO | 0007486 | E | validated | |
| MeSH | C562551 | E | validated | |
| UMLS | C0265966 | 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 (2):
- ORPHA:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352657
- This record as JSON: /data/d/352657.json