SIM1-related Prader-Willi-like syndrome
ORPHA:398079DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)7
HP:0000028Cryptorchidism
HP:0000135Hypogonadism
HP:0000789Infertility
HP:0001270Motor delay
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0008947Floppy infant
Частый (30–79%)31
HP:0000044Hypogonadotropic hypogonadism
HP:0000046Small scrotum
HP:0000060Clitoral hypoplasia
HP:0000064Hypoplastic labia minora
HP:0000486Strabismus
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000786Primary amenorrhea
HP:0001249Intellectual disability
HP:0001315Reduced tendon reflexes
HP:0001319Neonatal hypotonia
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0001612Weak cry
HP:0001773Short foot
HP:0002119Ventriculomegaly
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0003241External genital hypoplasia
HP:0008197Absence of pubertal development
HP:0008734Decreased testicular size
HP:0012166Skin-picking
HP:0012287Hypothalamic luteinizing hormone-releasing hormone deficiency
HP:0012506Small pituitary gland
HP:0012743Abdominal obesity
HP:0012758Neurodevelopmental delay
HP:0025160Abnormal temper tantrums
HP:0040288Nasogastric tube feeding
HP:0200055Small hand
HP:0410263Brain imaging abnormality
Периодический (5–29%)26
HP:0000054Micropenis
HP:0000217Xerostomia
HP:0000219Thin upper lip vermilion
HP:0000446Narrow nasal bridge
HP:0000709Psychosis
HP:0000826Precocious puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001010Hypopigmentation of the skin
HP:0001250Seizure
HP:0001254Lethargy
HP:0001385Hip dysplasia
HP:0002205Recurrent respiratory infections
HP:0002494Abnormal rapid eye movement sleep
HP:0002714Downturned corners of mouth
HP:0002870Obstructive sleep apnea
HP:0005599Hypopigmentation of hair
HP:0005978Type II diabetes mellitus
HP:0007874Almond-shaped palpebral fissure
HP:0010536Central sleep apnea
HP:0010829Impaired temperature sensition
HP:0011787Central hypothyroidism
HP:0012411Premature pubarche
HP:0012412Premature adrenarche
HP:0025237Confusional arousal
HP:0040030Chorioretinal hypopigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)