Superficial siderosis
ORPHA:247245DiseaseNot applicableAll ages
Фенотипы (HPO)49
Очень частый (80–99%)3
HP:0001251Ataxia
HP:0008619Bilateral sensorineural hearing impairment
HP:0009591Abnormality of the vestibulocochlear nerve
Частый (30–79%)7
HP:0001272Cerebellar atrophy
HP:0001273Abnormal corpus callosum morphology
HP:0001892Abnormal bleeding
HP:0007240Progressive gait ataxia
HP:0007340Lower limb muscle weakness
HP:0011029Internal hemorrhage
HP:0100543Cognitive impairment
Периодический (5–29%)36
HP:0000009Functional abnormality of the bladder
HP:0000458Anosmia
HP:0000726Dementia
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001350Slurred speech
HP:0001934Persistent bleeding after trauma
HP:0002013Vomiting
HP:0002018Nausea
HP:0002070Limb ataxia
HP:0002075Dysdiadochokinesis
HP:0002138Subarachnoid hemorrhage
HP:0002143Abnormality of the spinal cord
HP:0002315Headache
HP:0002317Unsteady gait
HP:0002321Vertigo
HP:0002334Abnormality of the cerebellar vermis
HP:0002354Memory impairment
HP:0002359Frequent falls
HP:0002921Abnormality of the cerebrospinal fluid
HP:0002922Increased CSF protein concentration
HP:0003401Paresthesia
HP:0003418Back pain
HP:0003487Babinski sign
HP:0003698Difficulty standing
HP:0006827Atrophy of the spinal cord
HP:0007256Abnormal pyramidal sign
HP:0007328Impaired pain sensation
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0009916Anisocoria
HP:0010633Partial anosmia
HP:0010829Impaired temperature sensition
HP:0032398Dysgyria
HP:0100006Neoplasm of the central nervous system
HP:0100026Arteriovenous malformation
HP:0100952Enlarged sylvian cistern
Очень редкий (1–4%)3
HP:0001250Seizure
HP:0030321Abnormal vertebral artery morphology
HP:0045052Abnormality of the brachial nerve plexus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | 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)