Thyroid hemiagenesis
ORPHA:95719Morphological anomalyNot applicableNeonatal
Фенотипы (HPO)27
Облигатный (100%)1
HP:0011780Thyroid hemiagenesis
Очень частый (80–99%)14
HP:0001510Growth delay
HP:0001537Umbilical hernia
HP:0002019Constipation
HP:0003270Abdominal distention
HP:0008191Thyroid agenesis
HP:0012378Fatigue
HP:0100786Hypersomnia
HP:0000158Macroglossia
HP:0000239Large fontanelles
HP:0000271Abnormality of the face
HP:0000280Coarse facial features
HP:0000952Jaundice
HP:0001252Hypotonia
HP:0001263Global developmental delay
Частый (30–79%)7
HP:0000854Thyroid adenoma
HP:0000872Hashimoto thyroiditis
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0011788Increased circulating free T3
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0025388Thyroid nodule
HP:0032069Anti-thyroglobulin antibody positivity
Периодический (5–29%)3
HP:0000843Hyperparathyroidism
HP:0002895Papillary thyroid carcinoma
HP:0100647Graves disease
Очень редкий (1–4%)2
HP:0002865Medullary thyroid carcinoma
HP:0006731Follicular thyroid carcinoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)