Huntington disease
ORPHA:399DiseaseAutosomal dominantAdolescent, Adult, Childhood, Elderly
Ассоциированные гены2
Фенотипы (HPO)53
Очень частый (80–99%)3
HP:0001268Mental deterioration
HP:0001347Hyperreflexia
HP:0002072Chorea
Частый (30–79%)31
HP:0001288Gait disturbance
HP:0000496Abnormality of eye movement
HP:0000713Agitation
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000734Disinhibition
HP:0000737Irritability
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000741Apathy
HP:0000746Delusion
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001824Weight loss
HP:0002067Bradykinesia
HP:0002141Gait imbalance
HP:0002312Clumsiness
HP:0002354Memory impairment
HP:0002375Hypokinesia
HP:0003324Generalized muscle weakness
HP:0004305Involuntary movements
HP:0004408Abnormality of the sense of smell
HP:0007010Poor fine motor coordination
HP:0009088Speech articulation difficulties
HP:0025401Staring gaze
HP:0031473Hostility
HP:0031843Bradyphrenia
HP:0031845Abnormal libido
Периодический (5–29%)19
HP:0001262Excessive daytime somnolence
HP:0002059Cerebral atrophy
HP:0002063Rigidity
HP:0002169Clonus
HP:0002300Mutism
HP:0002340Caudate atrophy
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0002591Polyphagia
HP:0003107Abnormality of cholesterol metabolism
HP:0003487Babinski sign
HP:0010794Impaired visuospatial constructive cognition
HP:0030842Choking episodes
HP:0030955Alcoholism
HP:0031589Suicidal ideation
HP:0040140Degeneration of the striatum
HP:0045082Decreased body mass index
HP:0100785Insomnia
HP:0200136Oral-pharyngeal dysphagia
Эпидемиология32
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 | Greece | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.38 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.7 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 12 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.6 | Ireland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.61 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.4 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.11 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.35 | Italy | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.69 | Canada | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.3 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.9 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.65 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.65 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.3 | Australia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.046 | China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.37 | China | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.2 | Slovenia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.08 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.42 | Taiwan, Province of China | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.14 | Iceland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Iceland | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.7 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.7 | Sweden | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.33 | Greece | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 21 | Egypt | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.64 | Cyprus | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.12 | Cyprus | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.8 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.94 | Spain | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.35 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)