Epidermal nevus syndrome
ORPHA:35125DiseaseNot applicableInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)1
HP:0003764Nevus
Частый (30–79%)7
HP:0000953Hyperpigmentation of the skin
HP:0001010Hypopigmentation of the skin
HP:0002176Spinal cord compression
HP:0003416Spinal canal stenosis
HP:0006827Atrophy of the spinal cord
HP:0007199Progressive spastic paraparesis
HP:0012531Pain
Периодический (5–29%)12
HP:0000483Astigmatism
HP:0000505Visual impairment
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001284Areflexia
HP:0002944Thoracolumbar scoliosis
HP:0003487Babinski sign
HP:0009077Weakness of long finger extensor muscles
HP:0010302Spinal cord tumor
HP:0012032Lipoma
HP:0012443Abnormality of brain morphology
Очень редкий (1–4%)6
HP:0000113Polycystic kidney dysplasia
HP:0000938Osteopenia
HP:0001999Abnormal facial shape
HP:0002859Rhabdomyosarcoma
HP:0004942Aortic aneurysm
HP:0100512Low levels of vitamin D
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 400 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)