Familial thyroid dyshormonogenesis
ORPHA:95716DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC5A5 | solute carrier family 5 member 5 | Disease-causing germline mutation(s) in | gene with protein product | 601843 |
| TPO | thyroid peroxidase | Disease-causing germline mutation(s) in | gene with protein product | 606765 |
| DUOX2 | dual oxidase 2 | Disease-causing germline mutation(s) in | gene with protein product | 606759 |
| DUOXA2 | dual oxidase maturation factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 612772 |
| TG | thyroglobulin | Disease-causing germline mutation(s) in | gene with protein product | 188450 |
| IYD | iodotyrosine deiodinase | Disease-causing germline mutation(s) in | gene with protein product | 612025 |
Фенотипы (HPO)30
Очень частый (80–99%)2
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0031507Decreased circulating thyroxine level
Частый (30–79%)12
HP:0012758Neurodevelopmental delay
HP:0000270Delayed cranial suture closure
HP:0000851Congenital hypothyroidism
HP:0000853Goiter
HP:0001537Umbilical hernia
HP:0002019Constipation
HP:0004491Large posterior fontanelle
HP:0005930Abnormality of epiphysis morphology
HP:0006579Prolonged neonatal jaundice
HP:0008263Thyroid defect in oxidation and organification of iodide
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)14
HP:0000158Macroglossia
HP:0000282Facial edema
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001265Hyporeflexia
HP:0001662Bradycardia
HP:0002045Hypothermia
HP:0003265Neonatal hyperbilirubinemia
HP:0005280Depressed nasal bridge
HP:0025482Positive perchlorate discharge test
HP:0025483Abnormal circulating thyroglobulin concentration
HP:0031219Reduced radioactive iodine uptake
HP:0031220Increased radioactive iodine uptake
Очень редкий (1–4%)1
HP:0000407Sensorineural hearing impairment
Исключён (0%)1
HP:0011437Maternal autoimmune disease
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.67 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 4 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)