Short stature-delayed bone age due to thyroid hormone metabolism deficiency
ORPHA:171706DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)18
Очень частый (80–99%)1
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)3
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0031506Increased circulating thyroxine level
HP:0032210Decreased circulating free T3
Периодический (5–29%)14
HP:0000508Ptosis
HP:0000736Short attention span
HP:0001249Intellectual disability
HP:0001510Growth delay
HP:0001513Obesity
HP:0002750Delayed skeletal maturation
HP:0003162Fasting hypoglycemia
HP:0003391Gowers sign
HP:0004322Short stature
HP:0008994Proximal muscle weakness in lower limbs
HP:0009053Distal lower limb muscle weakness
HP:0012548Fatty replacement of skeletal muscle
HP:0031903Abnormal circulating selenium concentration
HP:0040214Abnormal circulating insulin concentration
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)