Rett syndrome
ORPHA:778DiseaseX-linked dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)10
HP:0000253Progressive microcephaly
HP:0000733Abnormal repetitive mannerisms
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001344Absent speech
HP:0002376Developmental regression
HP:0002793Abnormal pattern of respiration
HP:0007064Progressive language deterioration
HP:0012171Stereotypical hand wringing
HP:0025430High-pitched cry
Частый (30–79%)12
HP:0001288Gait disturbance
HP:0001250Seizure
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002067Bradykinesia
HP:0002353EEG abnormality
HP:0003202Skeletal muscle atrophy
HP:0003763Bruxism
HP:0003808Abnormal muscle tone
HP:0030217Limb apraxia
HP:0033850Coldness
Периодический (5–29%)13
HP:0000713Agitation
HP:0001082Cholecystitis
HP:0001987Hyperammonemia
HP:0002151Increased circulating lactate concentration
HP:0002360Sleep abnormality
HP:0002490Increased CSF lactate
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0003542Increased serum pyruvate
HP:0008947Floppy infant
HP:0012332Abnormal autonomic nervous system physiology
HP:0031793Increased serum leptin
HP:0500231Abnormal CSF pyruvate family amino acid concentration
Очень редкий (1–4%)1
HP:0011451Congenital microcephaly
Эпидемиология11
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | France | Class only |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 5 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only |
| Prevalence at birth | 1-9 / 100 000 | — | United States | Class only |
| Point prevalence | 1-9 / 100 000 | 1.6 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.05 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only |
| Point prevalence | 1-9 / 100 000 | — | Hong Kong | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)