Hypothyroidism due to TSH receptor mutations
ORPHA:90673DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Облигатный (100%)1
HP:0011789Impaired sensitivity to thyroid stimulating hormone
Очень частый (80–99%)2
HP:0000851Congenital hypothyroidism
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
Частый (30–79%)4
HP:0006579Prolonged neonatal jaundice
HP:0025484Increased circulating thyroglobulin concentration
HP:0031219Reduced radioactive iodine uptake
HP:0031507Decreased circulating thyroxine level
Периодический (5–29%)15
HP:0000158Macroglossia
HP:0001254Lethargy
HP:0001265Hyporeflexia
HP:0001537Umbilical hernia
HP:0001662Bradycardia
HP:0002019Constipation
HP:0003265Neonatal hyperbilirubinemia
HP:0004491Large posterior fontanelle
HP:0005930Abnormality of epiphysis morphology
HP:0005990Thyroid hypoplasia
HP:0008223Compensated hypothyroidism
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
HP:0025429Abnormal cry
HP:0031220Increased radioactive iodine uptake
Очень редкий (1–4%)3
HP:0000969Edema
HP:0001252Hypotonia
HP:0002045Hypothermia
Исключён (0%)3
HP:0000853Goiter
HP:0011437Maternal autoimmune disease
HP:0030057Autoimmune antibody positivity
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)