Wilson disease
ORPHA:905DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)33
HP:0001288Gait disturbance
HP:5200321Amplification of sexual behavior
HP:0000140Abnormality of the menstrual cycle
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000952Jaundice
HP:0000978Bruising susceptibility
HP:0000989Pruritus
HP:0001155Abnormality of the hand
HP:0001249Intellectual disability
HP:0001260Dysarthria
HP:0001369Arthritis
HP:0001386Joint swelling
HP:0001394Cirrhosis
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0002312Clumsiness
HP:0002653Bone pain
HP:0002756Pathologic fracture
HP:0002829Arthralgia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003418Back pain
HP:0004324Increased body weight
HP:0006554Acute hepatic failure
HP:0008994Proximal muscle weakness in lower limbs
HP:0012115Hepatitis
HP:0200032Kayser-Fleischer ring
HP:0200119Acute hepatitis
Частый (30–79%)8
HP:0000751Personality changes
HP:0000939Osteoporosis
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001337Tremor
HP:0001878Hemolytic anemia
HP:0002072Chorea
HP:0010837Decreased circulating ceruloplasmin concentration
Периодический (5–29%)15
HP:0000709Psychosis
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000787Nephrolithiasis
HP:0000789Infertility
HP:0000829Hypoparathyroidism
HP:0001250Seizure
HP:0001541Ascites
HP:0001733Pancreatitis
HP:0002013Vomiting
HP:0002027Abdominal pain
HP:0003355Aminoaciduria
HP:0003781Excessive salivation
HP:0012748Focal T2 hyperintense brainstem lesion
HP:0100785Insomnia
Очень редкий (1–4%)1
HP:6000642Sunflower cataract
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.25 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 6 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.02 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.5 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.94 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 3 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | China | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.5 | Specific population | Value and class |
| Point prevalence | 1-5 / 10 000 | 37.04 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.37 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Germany | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.016 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.45 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)