Resistance to thyrotropin-releasing hormone syndrome
ORPHA:99832DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)19
HP:0008245Pituitary hypothyroidism
HP:0012378Fatigue
HP:0012758Neurodevelopmental delay
HP:0025483Abnormal circulating thyroglobulin concentration
HP:0025502Overweight
HP:0031219Reduced radioactive iodine uptake
HP:0031507Decreased circulating thyroxine level
HP:0032210Decreased circulating free T3
HP:0000707Abnormality of the nervous system
HP:0000716Depression
HP:0000870Increased circulating prolactin concentration
HP:0000958Dry skin
HP:0001254Lethargy
HP:0001510Growth delay
HP:0001609Hoarse voice
HP:0002750Delayed skeletal maturation
HP:0005990Thyroid hypoplasia
HP:0006579Prolonged neonatal jaundice
HP:0008202Reduced circulating prolactin concentration
Исключён (0%)4
HP:0000853Goiter
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0011437Maternal autoimmune disease
HP:0030057Autoimmune antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)