Von Hippel anomaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 98941 |
| OMIM Id: |
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| ICD-10: |
Q13.4 |
| 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 [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Peters anomaly
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0008046) | Abnormality of the retinal vasculature | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0000541) | Retinal detachment | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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