MICROPHTHALMIA, ISOLATED 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOP3 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
611038
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0009755) | Ankyloblepharon | 10 / 7739 | ||||
|
|
(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
|
|
(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
|
|
(HPO:0000647) | Sclerocornea | 25 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Voronina et al. (2004) reported a 12-year-old boy, born to nonconsanguineous parents, who had right clinical anophthalmia and ankyloblepharon and left microphthalmia with sclerocornea. Ocular ultrasound showed a very small cystic remnant on the right and persistent fetal ... |
| Molecular genetics OMIM |
Voronina et al. (2004) analyzed the RAX gene in 75 individuals with clinical anophthalmia and/or microphthalmia and identified compound heterozygosity for a nonsense mutation (601881.0001) and a missense mutation (601881.0002) in a 12-year-old boy with right clinical anophthalmia ... |