MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOPCB6 |
| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
613703
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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 Digenic 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:0009911) | Abnormality of the temporal bone | 1/2 [HPO] | 19864492 | IBIS | 1 / 7739 | |
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(HPO:0007633) | Bilateral microphthalmos | hallmark [HPO] | 19864492 | IBIS | 13 / 7739 | |
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(HPO:0000589) | Coloboma | hallmark [HPO] | 19864492 | IBIS | 47 / 7739 | |
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(HPO:0000639) | Nystagmus | 19864492 | IBIS | 555 / 7739 | ||
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(HPO:0007766) | Optic disc hypoplasia | 19864492 | IBIS | 7 / 7739 | ||
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(HPO:0007750) | Hypoplasia of the fovea | 19864492 | IBIS | 11 / 7739 | ||
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(HPO:0000505) | Visual impairment | 19864492 | IBIS | 297 / 7739 | ||
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(HPO:0010984) | Digenic inheritance | 4 / 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 |
Ye et al. (2010) screened DNA samples from 449 probands with isolated microphthalmia with coloboma and 23 probands with skeletal or oculoskeletal phenotypes for mutations in the GDF6 gene and identified respective heterozygous mutations (606522.0001 and 606522.0004) in ... |