Ring dermoid of cornea
Synonyms: Ring dermoid syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring dermoid of cornea | Ring dermoid syndrome |
| fr | Dermoïde annulaire limbique | |
| de | Ringdermoid der Kornea | Ringdermoid-Syndrom |
| es | Dermoide anular de la córnea | Síndrome dermoide anular |
| it | Dermoide anulare della cornea | Sindrome del dermoide anulare |
| nl | Ringdermoïd van cornea | Ringdermoïd van hoornvlies · Ringdermoïd-syndroom |
| pt | Dermóide anelar da córnea | |
| pl | Pierścieniowa torbiel skórzasta rogówki | = en |
| cs | Kruhový dermoid rohovky | Syndrom kruhového dermoidu |
| uk | Кільцевий дермоїд рогівки | Кільцеподібний дермоїдний синдром |
| zh | 角膜环状皮样囊肿 | 环状皮样综合征 |
| tr | Korneanın halka dermoidi | Halka dermoid sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180550 | E | validated | |
| ICD-10 | D31.1 | NTBT | attributed | validated |
| ICD-11 | 2F36.Y | NTBT | index | validated |
| MONDO | 0008387 | E | validated | |
| MeSH | C535684 | E | validated | |
| UMLS | C1867155 | E | validated | |
| GARD | 9696 | 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:183619Genetic eye tumor
rare genetic diseases - ORPHA:101950Rare eye tumor
rare ophthalmic disorders; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PITX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 15591271[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/91481
- This record as JSON: /data/d/91481.json