Phakomatosis pigmentovascularis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 16 |
| OrphanetNr: | 2875 |
| OMIM Id: |
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| ICD-10: |
Q85.8 |
| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic hyperpigmentation of the skin
-Rare genetic disease Hyperpigmentation of the skin -Rare skin disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Rare disease with glaucoma as a major feature -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Vascular anomaly or angioma -Rare circulatory system disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0011524) | Iris melanoma | Very frequent [Orphanet] | 1 / 7739 | |||
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0000592) | Blue sclerae | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0000953) | Hyperpigmentation of the skin | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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