Angelman syndrome
ORPHA:72Malformation syndromeNot applicableInfancy
Фенотипы (HPO)71
Очень частый (80–99%)19
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000748Inappropriate laughter
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001270Motor delay
HP:0001337Tremor
HP:0002120Cerebral cortical atrophy
HP:0002136Broad-based gait
HP:0002167Abnormality of speech or vocalization
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002465Poor speech
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0100716Self-injurious behavior
Частый (30–79%)19
HP:0000154Wide mouth
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0001010Hypopigmentation of the skin
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002286Fair hair
HP:0002307Drooling
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0006979Sleep-wake cycle disturbance
HP:0007730Iris hypopigmentation
HP:0008947Floppy infant
HP:0010808Protruding tongue
HP:0011024Abnormality of the gastrointestinal tract
HP:0011968Feeding difficulties
HP:0100023Recurrent hand flapping
Периодический (5–29%)32
HP:0000303Mandibular prognathia
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000543Optic disc pallor
HP:0000545Myopia
HP:0000563Keratoconus
HP:0000639Nystagmus
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0000687Widely spaced teeth
HP:0000718Aggressive behavior
HP:0000739Anxiety
HP:0000817Reduced eye contact
HP:0001336Myoclonus
HP:0001344Absent speech
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002540Inability to walk
HP:0005469Flat occiput
HP:0007266Cerebral dysmyelination
HP:0007270Atypical absence seizure
HP:0008081Pes valgus
HP:0010465Precocious puberty in females
HP:0010819Atonic seizure
HP:0011471Gastrostomy tube feeding in infancy
HP:0012569Delayed menarche
HP:0040082Happy demeanor
HP:0040288Nasogastric tube feeding
HP:0100703Tongue thrusting
Очень редкий (1–4%)1
HP:0012469Infantile spasms
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.5 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.3 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.8 | Estonia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Estonia | Class only |
| Point prevalence | 1-5 / 10 000 | 10 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)