Congenital cornea plana
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cornea plana | |
| fr | Cornea plana congénitale | |
| de | Cornea plana, kongenitale | |
| es | Córnea plana congénita | |
| it | Cornea piana congenita | |
| nl | Congenitale cornea plana | |
| pt | Córnea plana congénita | |
| pl | Wrodzona rogówka płaska | |
| cs | Cornea plana congenita | |
| uk | Вроджена вада розвитку рогівки | |
| zh | 先天性扁平角膜 | |
| tr | Doğumsal kornea plana |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121400 | BTNT | validated | |
| OMIM | 217300 | BTNT | validated | |
| ICD-10 | Q13.4 | NTBT | attributed | validated |
| ICD-11 | LA11.1 | NTBT | index | validated |
| MONDO | 0018888 | E | validated | |
| UMLS | C0344529 | 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 (5):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:519282Rare corneal disorder
rare ophthalmic disorders - ORPHA:522556Rare genetic corneal disorder
rare genetic diseases - ORPHA:98621Rare hyperopia and astigmatism
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KERA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6309 | ENSG00000139330 | 603288 | 12q21.33 | keratocan | 10802664[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | 24303778[PMID]_17558846[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24303778[PMID]_17558846[PMID]_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/53691
- This record as JSON: /data/d/53691.json