Pendred syndrome
ORPHA:705Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC26A4 | solute carrier family 26 member 4 | Disease-causing germline mutation(s) in | gene with protein product | 605646 |
| KCNJ10 | potassium inwardly rectifying channel subfamily J member 10 | Disease-causing germline mutation(s) in | gene with protein product | 602208 |
| FOXI1 | forkhead box I1 | Disease-causing germline mutation(s) in | gene with protein product | 601093 |
Фенотипы (HPO)15
Очень частый (80–99%)4
HP:0000359Abnormality of the inner ear
HP:0000407Sensorineural hearing impairment
HP:0008586Hypoplasia of the cochlea
HP:0011387Enlarged vestibular aqueduct
Частый (30–79%)2
HP:0000821Hypothyroidism
HP:0000853Goiter
Периодический (5–29%)9
HP:0000112Nephropathy
HP:0000843Hyperparathyroidism
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0002093Respiratory insufficiency
HP:0002167Abnormality of speech or vocalization
HP:0002321Vertigo
HP:0002777Tracheal stenosis
HP:0002890Thyroid carcinoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)