X-linked cerebral adrenoleukodystrophy
ORPHA:139396Clinical subtypeX-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)8
HP:0001268Mental deterioration
HP:0002196Myelopathy
HP:0007162Diffuse demyelination of the cerebral white matter
HP:0007305CNS demyelination
HP:0008163Decreased circulating cortisol level
HP:0008167Very long chain fatty acid accumulation
HP:0008207Primary adrenal insufficiency
HP:0009830Peripheral neuropathy
Частый (30–79%)10
HP:0000708Atypical behavior
HP:0001328Specific learning disability
HP:0002143Abnormality of the spinal cord
HP:0002283Global brain atrophy
HP:0002518Abnormal periventricular white matter morphology
HP:0003477Peripheral axonal neuropathy
HP:0004302Functional motor deficit
HP:0004359Abnormal circulating fatty-acid concentration
HP:0007141Sensorimotor neuropathy
HP:0012501Abnormality of the brainstem white matter
Периодический (5–29%)29
HP:0007034Generalized hyperreflexia
HP:0000026Male hypogonadism
HP:0000317Facial myokymia
HP:0000365Hearing impairment
HP:0000657Oculomotor apraxia
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001269Hemiparesis
HP:0001285Spastic tetraparesis
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0001310Dysmetria
HP:0002015Dysphagia
HP:0002061Lower limb spasticity
HP:0002167Abnormality of speech or vocalization
HP:0002186Apraxia
HP:0002354Memory impairment
HP:0003089Hamstring contractures
HP:0007663Reduced visual acuity
HP:0010527Astereognosia
HP:0010794Impaired visuospatial constructive cognition
HP:0011448Ankle clonus
HP:0030222Visual agnosia
HP:0031993Hoffmann sign
HP:0040288Nasogastric tube feeding
HP:0045084Limb myoclonus
Очень редкий (1–4%)3
HP:0000618Blindness
HP:0002540Inability to walk
HP:0031358Vegetative state
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)