Genetic transient congenital hypothyroidism
ORPHA:226316DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)5
HP:0000853Goiter
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0008263Thyroid defect in oxidation and organification of iodide
HP:0025484Increased circulating thyroglobulin concentration
HP:0031507Decreased circulating thyroxine level
Периодический (5–29%)12
HP:0000158Macroglossia
HP:0001070Mottled pigmentation
HP:0001254Lethargy
HP:0001537Umbilical hernia
HP:0001615Hoarse cry
HP:0002019Constipation
HP:0006579Prolonged neonatal jaundice
HP:0011437Maternal autoimmune disease
HP:0011968Feeding difficulties
HP:0031169Postterm pregnancy
HP:0031221Abnormal radioactive iodine uptake test result
HP:0100786Hypersomnia
Очень редкий (1–4%)4
HP:0000969Edema
HP:0001252Hypotonia
HP:0002045Hypothermia
HP:0005990Thyroid hypoplasia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)