Full NF2-related schwannomatosis
ORPHA:637DiseaseAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)1
HP:0030430Neuroma
Частый (30–79%)11
HP:0000407Sensorineural hearing impairment
HP:0000478Abnormality of the eye
HP:0002196Myelopathy
HP:0002858Meningioma
HP:0007663Reduced visual acuity
HP:0007787Posterior subcapsular cataract
HP:0009589Bilateral vestibular schwannoma
HP:0009593Peripheral schwannoma
HP:0010302Spinal cord tumor
HP:0100009Intracranial meningioma
HP:0100963Hyperesthesia
Периодический (5–29%)31
HP:0000238Hydrocephalus
HP:0000360Tinnitus
HP:0000572Visual loss
HP:0000587Abnormal optic nerve morphology
HP:0000618Blindness
HP:0000646Amblyopia
HP:0000651Diplopia
HP:0000763Sensory neuropathy
HP:0000953Hyperpigmentation of the skin
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001269Hemiparesis
HP:0001271Polyneuropathy
HP:0001317Abnormal cerebellum morphology
HP:0002015Dysphagia
HP:0002172Postural instability
HP:0002317Unsteady gait
HP:0002354Memory impairment
HP:0002512Brain stem compression
HP:0002888Ependymoma
HP:0003474Somatic sensory dysfunction
HP:0006824Cranial nerve paralysis
HP:0008069Neoplasm of the skin
HP:0009027Foot dorsiflexor weakness
HP:0009594Retinal hamartoma
HP:0009831Mononeuropathy
HP:0010628Facial palsy
HP:0031189Wrist drop
HP:0100010Spinal meningioma
HP:0100014Epiretinal membrane
HP:0100019Cortical cataract
Очень редкий (1–4%)4
HP:0002381Aphasia
HP:0007968Remnants of the hyaloid vascular system
HP:0009592Astrocytoma
HP:0009733Glioma
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.78 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.56 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)