MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOPCB7 |
| Number of Symptoms | 8 |
| OrphanetNr: | |
| OMIM Id: |
614497
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0011478) | True anophthalmia | 17 / 7739 | ||||
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | rare [HPO:skoehler] | 183 / 7739 | |||
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(HPO:0000611) | Choroid coloboma | 12 / 7739 | ||||
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(HPO:0000480) | Retinal coloboma | 16 / 7739 | ||||
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(HPO:0000567) | Chorioretinal coloboma | 26 / 7739 | ||||
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(HPO:0000612) | Iris coloboma | 116 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In a 3-generation Chinese family with autosomal dominant iris and chorioretinal coloboma mapping to chromosome 2q35 and known to be negative for mutation in known coloboma-associated genes, Wang et al. (2012) sequenced the exons of 76 candidate genes ... |