Autosomal dominant keratitis
Synonyms: Hereditary keratitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant keratitis | Hereditary keratitis |
| fr | Kératite autosomique dominante | Kératite héréditaire |
| de | Keratitis, autosomal-dominante | Keratitis, hereditäre |
| es | Queratitis autosómica dominante | Queratitis hereditaria |
| it | Cheratite autosomica dominante | Cheratite ereditaria |
| nl | Autosomaal dominante keratitis | Erfelijke keratitis |
| pt | Queratite autossómica dominante | Queratite hereditária |
| pl | Autosomalne dominujące zapalenie rogówki | Dziedziczne zapalenie rogówki |
| cs | Autozomálně dominantní keratitida | Hereditární keratitida · Dědičná keratitida |
| uk | Аутосомно-домінантний кератит | Спадковий кератит |
| zh | 常染色体显性角膜炎 | 遗传性角膜炎 |
| tr | Otozomal dominant keratit | Kalıtsal keratit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148190 | E | validated | |
| ICD-10 | H16.8 | NTBT | attributed | validated |
| ICD-11 | 9A7Y | NTBT | index | validated |
| MONDO | 0007848 | E | validated | |
| MeSH | C537022 | E | validated | |
| UMLS | C1835698 | E | validated | |
| GARD | 3089 | 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:522566Rare genetic inflammatory/autoimmune corneal disorder
rare genetic diseases - ORPHA:519290Rare inflammatory/autoimmune corneal disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 7668281[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
16 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000491 | Keratitis | |
| Frequent (79-30%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0025348 | Abnormality of the corneal limbus | |
| HP:0011496 | Corneal neovascularization | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0007990 | Hypoplastic iris stroma | |
| HP:0032107 | Limbal stem cell deficiency | |
| HP:0001104 | Macular hypoplasia | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0000526 | Aniridia | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0000518 | Cataract | |
| HP:0000589 | Coloboma | |
| HP:0006934 | Congenital nystagmus | |
| HP:0000482 | Microcornea | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7668281[PMID]_7627897[PMID]_24138039[PMID]_22171686[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2334
- This record as JSON: /data/d/2334.json