phakomatosis pigmentovascularis
MONDO:0017318Mondo
Findings
No curated finding names phakomatosis pigmentovascularis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Nevus flammeusHPOHP:0001052
- Very frequent (80% to 99% of cases)
- ParesthesiaHPOHP:0003401
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Cerebral calcificationHPOHP:0002514
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Show the remaining 2
- Blue scleraeHPOHP:0000592
- Occasional (5% to 29% of cases)
- Facial asymmetryHPOHP:0000324
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: phakomatosis pigmentovascularis
- Also called
- port-wine stain with oculocutaneous melanosis