Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
ORPHA:95715DiseaseNot applicableNeonatal
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0011437Maternal autoimmune disease
HP:0030057Autoimmune antibody positivity
Частый (30–79%)11
HP:0000260Wide anterior fontanel
HP:0000958Dry skin
HP:0001265Hyporeflexia
HP:0001537Umbilical hernia
HP:0002019Constipation
HP:0002926Abnormality of thyroid physiology
HP:0011968Feeding difficulties
HP:0031098Decreased thyroid-stimulating hormone level
HP:0031219Reduced radioactive iodine uptake
HP:0031507Decreased circulating thyroxine level
HP:0100786Hypersomnia
Периодический (5–29%)7
HP:0000280Coarse facial features
HP:0001319Neonatal hypotonia
HP:0002908Conjugated hyperbilirubinemia
HP:0006579Prolonged neonatal jaundice
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0025483Abnormal circulating thyroglobulin concentration
HP:0500011Moon facies
Исключён (0%)1
HP:0000853Goiter
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)