Alexander disease
ORPHA:58DiseaseAutosomal dominantAll ages
Фенотипы (HPO)61
Очень частый (80–99%)17
HP:0000256Macrocephaly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001274Agenesis of corpus callosum
HP:0001347Hyperreflexia
HP:0001355Megalencephaly
HP:0001508Failure to thrive
HP:0002007Frontal bossing
HP:0002017Nausea and vomiting
HP:0002167Abnormality of speech or vocalization
HP:0002169Clonus
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0007256Abnormal pyramidal sign
HP:0100729Large face
Частый (30–79%)23
HP:0000496Abnormality of eye movement
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0000712Emotional lability
HP:0000716Depression
HP:0000975Hyperhidrosis
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001618Dysphonia
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002045Hypothermia
HP:0002381Aphasia
HP:0002445Tetraplegia
HP:0002514Cerebral calcification
HP:0002615Hypotension
HP:0002808Kyphosis
HP:0010535Sleep apnea
HP:0010628Facial palsy
HP:0100247Recurrent singultus
Периодический (5–29%)21
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000470Short neck
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0000826Precocious puberty
HP:0000938Osteopenia
HP:0001252Hypotonia
HP:0001324Muscle weakness
HP:0001645Sudden cardiac death
HP:0002072Chorea
HP:0002093Respiratory insufficiency
HP:0002376Developmental regression
HP:0002383Infectious encephalitis
HP:0002410Aqueductal stenosis
HP:0002607Bowel incontinence
HP:0003307Hyperlordosis
HP:0007481Hyperpigmented nevi
HP:0012332Abnormal autonomic nervous system physiology
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.037 | Japan | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)