Isolated anophthalmia - microphthalmia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Isolated pure microphthalmia Primitive anophthalmia Clinical anophthalmia |
| Number of Symptoms | 5 |
| OrphanetNr: | 2542 |
| OMIM Id: |
251600
610093 611038 613094 613517 613704 615113 |
| ICD-10: |
Q11.0 Q11.1 Q11.2 |
| 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: | 5.3 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Anophthalmia - microphthalmia
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Nonsyndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0008499) | High-grade hypermetropia | 14 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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