Dural sinus malformation with arteriovenous shunt
ORPHA:97339Morphological anomalyAntenatal, Infancy, Neonatal
Фенотипы (HPO)48
Частый (30–79%)5
HP:0000238Hydrocephalus
HP:0001977Abnormal thrombosis
HP:0004947Arteriovenous fistula
HP:0008629Pulsatile tinnitus
HP:0030724Central nervous system cyst
Периодический (5–29%)28
HP:0000256Macrocephaly
HP:0000501Glaucoma
HP:0000504Abnormality of vision
HP:0000520Proptosis
HP:0000572Visual loss
HP:0000932Abnormality of the posterior cranial fossa
HP:0001085Papilledema
HP:0001268Mental deterioration
HP:0001297Stroke
HP:0001317Abnormal cerebellum morphology
HP:0001324Muscle weakness
HP:0001342Cerebral hemorrhage
HP:0002017Nausea and vomiting
HP:0002138Subarachnoid hemorrhage
HP:0002170Intracranial hemorrhage
HP:0002196Myelopathy
HP:0002315Headache
HP:0002370Poor coordination
HP:0002463Language impairment
HP:0002516Increased intracranial pressure
HP:0003474Somatic sensory dysfunction
HP:0007906Ocular hypertension
HP:0011342Mild global developmental delay
HP:0011695Cerebellar hemorrhage
HP:0012375Chemosis
HP:0031157Carotid cavernous fistula
HP:0100309Subdural hemorrhage
HP:3000043Abnormal facial vein morphology
Очень редкий (1–4%)15
HP:0000651Diplopia
HP:0000726Dementia
HP:0000741Apathy
HP:0001250Seizure
HP:0001251Ataxia
HP:0001269Hemiparesis
HP:0001300Parkinsonism
HP:0002167Abnormality of speech or vocalization
HP:0002181Cerebral edema
HP:0002273Tetraparesis
HP:0002617Dilatation
HP:0006824Cranial nerve paralysis
HP:0007333Hypoplasia of the frontal lobes
HP:0011343Moderate global developmental delay
HP:0030766Ear pain
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)