X-linked adrenoleukodystrophy
ORPHA:43DiseaseX-linked dominantAdolescent, Adult, Childhood, Elderly
Фенотипы (HPO)36
Очень частый (80–99%)21
HP:0000504Abnormality of vision
HP:0000505Visual impairment
HP:0000572Visual loss
HP:0000708Atypical behavior
HP:0000726Dementia
HP:0000752Hyperactivity
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001328Specific learning disability
HP:0001730Progressive hearing impairment
HP:0001939Abnormality of metabolism/homeostasis
HP:0002311Incoordination
HP:0002312Clumsiness
HP:0002315Headache
HP:0002385Paraparesis
HP:0003474Somatic sensory dysfunction
HP:0004302Functional motor deficit
HP:0007018Attention deficit hyperactivity disorder
HP:0007199Progressive spastic paraparesis
HP:0008969Leg muscle stiffness
HP:0100543Cognitive impairment
Частый (30–79%)12
HP:0000011Neurogenic bladder
HP:0000718Aggressive behavior
HP:0000734Disinhibition
HP:0000846Adrenal insufficiency
HP:0001123Visual field defect
HP:0001269Hemiparesis
HP:0002381Aphasia
HP:0002516Increased intracranial pressure
HP:0002839Urinary bladder sphincter dysfunction
HP:0003154Increased circulating ACTH level
HP:0008768Inappropriate sexual behavior
HP:0011733Abnormality of adrenal physiology
Периодический (5–29%)3
HP:0000651Diplopia
HP:0000802Impotence
HP:0003470Paralysis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Israel | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.8 | Norway | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 2.0639 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)