Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
ORPHA:566243DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)20
Очень частый (80–99%)4
HP:0000853Goiter
HP:0001649Tachycardia
HP:0033075Inappropriately normal thyroid-stimulating hormone level
HP:0033077Increased circulating free T4 concentration
Частый (30–79%)10
HP:0000403Recurrent otitis media
HP:0000739Anxiety
HP:0000752Hyperactivity
HP:0001328Specific learning disability
HP:0002750Delayed skeletal maturation
HP:0007018Attention deficit hyperactivity disorder
HP:0011788Increased circulating free T3
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0032069Anti-thyroglobulin antibody positivity
HP:0034288Elevated circulating reverse T3 concentration
Периодический (5–29%)5
HP:0000407Sensorineural hearing impairment
HP:0001530Mild postnatal growth retardation
HP:0001962Palpitations
HP:0012758Neurodevelopmental delay
HP:0025484Increased circulating thyroglobulin concentration
Исключён (0%)1
HP:0031098Decreased thyroid-stimulating hormone level
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | United States | Class only |
| Point prevalence | Unknown | — | Japan | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.47 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.4 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)