Idiopathic congenital hypothyroidism
ORPHA:95717DiseaseInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0031507Decreased circulating thyroxine level
Частый (30–79%)9
HP:0000270Delayed cranial suture closure
HP:0001537Umbilical hernia
HP:0002019Constipation
HP:0004491Large posterior fontanelle
HP:0005930Abnormality of epiphysis morphology
HP:0006579Prolonged neonatal jaundice
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
HP:0012758Neurodevelopmental delay
Периодический (5–29%)9
HP:0000158Macroglossia
HP:0000282Facial edema
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001265Hyporeflexia
HP:0001662Bradycardia
HP:0002045Hypothermia
HP:0003265Neonatal hyperbilirubinemia
HP:0005280Depressed nasal bridge
Исключён (0%)4
HP:0011437Maternal autoimmune disease
HP:0030057Autoimmune antibody positivity
HP:0031219Reduced radioactive iodine uptake
HP:0031220Increased radioactive iodine uptake
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)