Athyreosis
ORPHA:95713Morphological anomalyAutosomal dominantInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FOXE1 | forkhead box E1 | Candidate gene tested in | gene with protein product | 602617 |
| NKX2-1 | NK2 homeobox 1 | Candidate gene tested in | gene with protein product | 600635 |
| SLC26A4 | solute carrier family 26 member 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605646 |
| TSHR | thyroid stimulating hormone receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603372 |
| NKX2-5 | NK2 homeobox 5 | Disease-causing germline mutation(s) in | gene with protein product | 600584 |
| PAX8 | paired box 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 167415 |
Фенотипы (HPO)25
Очень частый (80–99%)14
HP:0000158Macroglossia
HP:0000239Large fontanelles
HP:0000271Abnormality of the face
HP:0000280Coarse facial features
HP:0000821Hypothyroidism
HP:0001252Hypotonia
HP:0001324Muscle weakness
HP:0002019Constipation
HP:0003270Abdominal distention
HP:0008191Thyroid agenesis
HP:0011968Feeding difficulties
HP:0012378Fatigue
HP:0025483Abnormal circulating thyroglobulin concentration
HP:0100786Hypersomnia
Частый (30–79%)11
HP:0000282Facial edema
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001537Umbilical hernia
HP:0001615Hoarse cry
HP:0004322Short stature
HP:0006579Prolonged neonatal jaundice
HP:0008282Unconjugated hyperbilirubinemia
HP:0010864Intellectual disability, severe
HP:0033850Coldness
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)