Laron syndrome
ORPHA:633DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)12
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000684Delayed eruption of teeth
HP:0000691Microdontia
HP:0000818Abnormality of the endocrine system
HP:0001956Truncal obesity
HP:0001999Abnormal facial shape
HP:0002750Delayed skeletal maturation
HP:0003510Severe short stature
HP:0005281Hypoplastic nasal bridge
HP:0009804Tooth agenesis
HP:0009924Aplasia/Hypoplasia involving the nose
Частый (30–79%)8
HP:0000823Delayed puberty
HP:0001156Brachydactyly
HP:0001270Motor delay
HP:0001831Short toe
HP:0001943Hypoglycemia
HP:0008736Hypoplasia of penis
HP:0009811Abnormality of the elbow
HP:0009891Underdeveloped supraorbital ridges
Периодический (5–29%)9
HP:0000457Depressed nasal ridge
HP:0000592Blue sclerae
HP:0000929Abnormal skull morphology
HP:0000966Hypohidrosis
HP:0001249Intellectual disability
HP:0001620Abnormally high-pitched voice
HP:0002758Osteoarthritis
HP:0003124Hypercholesterolemia
HP:0007495Prematurely aged appearance
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.86 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)