ORPHA:91490
Isolated congenital sclerocornea
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital sclerocornea | |
| fr | Sclérocornée isolée congénitale | |
| de | Sklerokornea, isolierte kongenitale | |
| es | Esclerocórnea aislada congénita | |
| it | Sclerocornea congenita isolata | |
| nl | Geïsoleerde congenitale sclerocornea | |
| pt | Esclerocórnea congénita isolada | |
| pl | Izolowana wrodzona twardówko-rogówka | |
| cs | Izolovaná vrozená sklerokornea | |
| uk | Ізольована вроджена склерокорнеа | |
| zh | 特发性先天性巩膜化角膜 | |
| tr | İzole doğumsal sklerokornea |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181700 | BTNT | validated | |
| ICD-10 | Q13.3 | E | specific | validated |
| ICD-11 | LA11.1 | NTBT | index | validated |
| MONDO | 0019629 | E | validated | |
| MONDO | 19629 | E | validated | |
| UMLS | C0344533 | 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 (1):
- ORPHA:98635Corneodysgenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:4281 | ENSG00000121634 | 600897 | 1q21.2 | gap junction protein alpha 8 | 28455998[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/91490
- This record as JSON: /data/d/91490.json