Ring dermoid of cornea
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RDC Ring dermoid syndrome |
| Number of Symptoms | 4 |
| OrphanetNr: | 91481 |
| OMIM Id: |
180550
|
| ICD-10: |
D31.1 |
| UMLs: |
C1867155 |
| MeSH: |
C535684 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 30 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare eye tumor
-Rare eye disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0000502) | Abnormality of the conjunctiva | 6 / 7739 | ||||
|
|
(HPO:0000481) | Abnormality of the cornea | 124 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Annular limbal dermoids extending onto cornea and conjunctiva | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Mattos et al. (1980) reported a Peruvian family in which the grandmother, all 3 of her children (daughters), and 1 of the 2 sons of a daughter had bilateral annular limbal dermoids with corneal and conjunctival extensions. There ... |
| Molecular genetics OMIM | In affected members of a large Chinese family segregating RDC, Xia et al. (2004) identified heterozygosity for an R62H mutation in the PITX2 gene (601542.0012); the mutation was not found in 8 unaffected members of the family. |