Superficial corneal dystrophy
Synonyms: Anterior corneal dystrophy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- All ages
- Status
- active
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Superficial corneal dystrophy | Anterior corneal dystrophy |
| fr | Dystrophie cornéenne superficielle | Dystrophie cornéenne antérieure |
| de | Hornhautdystrophie, superfizielle | Vordere Hornhautdystrophie · Oberflächliche Hornhautdystrophie |
| es | Distrofia corneal superficial | Distrofia corneal anterior |
| it | Distrofia corneale superficiale | Disstrofia corneale anteriore |
| nl | Oppervlakkige corneadystrofie | Anterieure corneadystrofie |
| pt | Distrofia da córnea anterior | |
| pl | Dystrofia powierzchowna rogówki | Dystrofia przednia rogówki |
| cs | Superficiální dystrofie rohovky | Přední dystrofie rohovky |
| uk | Поверхнева дистрофія рогівки | Передня дистрофія рогівки |
| zh | 浅层角膜营养不良 | 角膜前部营养不良 |
| tr | Yüzeysel kornea distrofisi | Ön kornea distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020212 | E | validated | |
| UMLS | C2315777 | 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:34533Corneal dystrophy
rare ophthalmic disorders
Children (12):
- ORPHA:98958Climatic droplet keratopathy
- ORPHA:352662Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- ORPHA:98956Epithelial basement membrane dystrophy
- ORPHA:293381Epithelial recurrent erosion dystrophy
- ORPHA:98957Gelatinous drop-like corneal dystrophy
- ORPHA:293375Grayson-Wilbrandt corneal dystrophy
- ORPHA:352657Hereditary benign intraepithelial dyskeratosis
- ORPHA:98955Lisch epithelial corneal dystrophy
- ORPHA:98954Meesmann corneal dystrophy
- ORPHA:98961Reis-Bücklers corneal dystrophy
- ORPHA:98959Subepithelial mucinous corneal dystrophy
- ORPHA:98960Thiel-Behnke corneal dystrophy
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13.8 / 100 000 | United States | Value and class | Not yet validated | 21791583[PMID] |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98625
- This record as JSON: /data/d/98625.json