Prader-Willi syndrome
ORPHA:739DiseaseAutosomal dominant, Not applicableAntenatal, Neonatal
Фенотипы (HPO)90
Очень частый (80–99%)10
HP:0000028Cryptorchidism
HP:0000739Anxiety
HP:0000789Infertility
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001510Growth delay
HP:0002015Dysphagia
HP:0004322Short stature
HP:0008872Feeding difficulties in infancy
HP:0025160Abnormal temper tantrums
Частый (30–79%)54
HP:0002494Abnormal rapid eye movement sleep
HP:0002578Gastroparesis
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0002870Obstructive sleep apnea
HP:0003241External genital hypoplasia
HP:0005599Hypopigmentation of hair
HP:0005616Accelerated skeletal maturation
HP:0006297Enamel hypoplasia
HP:0006889Intellectual disability, borderline
HP:0007018Attention deficit hyperactivity disorder
HP:0008734Decreased testicular size
HP:0010536Central sleep apnea
HP:0010829Impaired temperature sensition
HP:0012506Small pituitary gland
HP:0012650Perisylvian polymicrogyria
HP:0012743Abdominal obesity
HP:0030339Decreased circulating gonadotropin level
HP:0034323Reduced circulating growth hormone concentration
HP:0200055Small hand
HP:0410263Brain imaging abnormality
HP:0000046Small scrotum
HP:0000059Hypoplastic labia majora
HP:0000060Clitoral hypoplasia
HP:0000064Hypoplastic labia minora
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000678Dental crowding
HP:0000704Periodontitis
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000824Decreased response to growth hormone stimulation test
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000969Edema
HP:0001010Hypopigmentation of the skin
HP:0001055Erysipelas
HP:0001256Intellectual disability, mild
HP:0001265Hyporeflexia
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0001558Decreased fetal movement
HP:0001612Weak cry
HP:0001773Short foot
HP:0001999Abnormal facial shape
HP:0002033Poor suck
HP:0002119Ventriculomegaly
HP:0002205Recurrent respiratory infections
Периодический (5–29%)24
HP:0000217Xerostomia
HP:0000446Narrow nasal bridge
HP:0000709Psychosis
HP:0000729Autistic behavior
HP:0000822Hypertension
HP:0001250Seizure
HP:0001262Excessive daytime somnolence
HP:0001297Stroke
HP:0001385Hip dysplasia
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002342Intellectual disability, moderate
HP:0002500Abnormal cerebral white matter morphology
HP:0002714Downturned corners of mouth
HP:0005978Type II diabetes mellitus
HP:0007874Almond-shaped palpebral fissure
HP:0008245Pituitary hypothyroidism
HP:0011470Nasogastric tube feeding in infancy
HP:0011748Adrenocorticotropic hormone deficiency
HP:0011787Central hypothyroidism
HP:0012166Skin-picking
HP:0012411Premature pubarche
HP:0012412Premature adrenarche
HP:0031100Decreased inhibin B level
Очень редкий (1–4%)2
HP:0000826Precocious puberty
HP:0011734Central adrenal insufficiency
Эпидемиология16
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.1 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.7 | Belgium | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.3 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.4 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.9 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.6 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only |
| Prevalence at birth | 1-9 / 100 000 | 4 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only |
| Prevalence at birth | 1-9 / 100 000 | 6.2 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only |
| Prevalence at birth | 1-9 / 100 000 | 4.76 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.229 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)