MICROPHTHALMIA, ISOLATED 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCOP4 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
613094
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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 [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Symptom Information:
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(HPO:0010469) | Aplasia of the testes | 19129173 | IBIS | 1 / 7739 | ||
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(HPO:0000568) | Microphthalmia | hallmark [HPO] | 19129173 | IBIS | 183 / 7739 | |
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(HPO:0000589) | Coloboma | 1/3 [HPO] | 19129173 | IBIS | 47 / 7739 | |
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(HPO:0100259) | Postaxial polydactyly | 1/3 [HPO] | 19129173 | IBIS | 85 / 7739 | |
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
| GDF6; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Asai-Coakwell et al. (2009) screened DNA samples from 489 patients with ocular anomalies (microphthalmia, clinical anophthalmia, and coloboma) and 81 patients with vertebral segmentation anomalies for mutations in the GDF6 gene (601147). They identified heterozygosity for 5 different missense ... |