Andersen-Tawil syndrome
ORPHA:37553DiseaseAutosomal dominantChildhood
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KCNJ2 | potassium inwardly rectifying channel subfamily J member 2 | Disease-causing germline mutation(s) in | gene with protein product | 600681 |
| KCNJ5 | potassium inwardly rectifying channel subfamily J member 5 | Disease-causing germline mutation(s) in | gene with protein product | 600734 |
Фенотипы (HPO)51
Облигатный (100%)2
HP:0003768Periodic paralysis
HP:0001324Muscle weakness
Очень частый (80–99%)1
HP:0003752Episodic flaccid weakness
Частый (30–79%)7
HP:0000164Abnormality of the dentition
HP:0000347Micrognathia
HP:0001657Prolonged QT interval
HP:0001999Abnormal facial shape
HP:0004308Ventricular arrhythmia
HP:0004322Short stature
HP:0008153Periodic hypokalemic paresis
Периодический (5–29%)38
HP:0001382Joint hypermobility
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000325Triangular face
HP:0000327Hypoplasia of the maxilla
HP:0000337Broad forehead
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000677Oligodontia
HP:0000678Dental crowding
HP:0000859Hyperaldosteronism
HP:0001250Seizure
HP:0001328Specific learning disability
HP:0001510Growth delay
HP:0001644Dilated cardiomyopathy
HP:0001664Torsade de pointes
HP:0001773Short foot
HP:0001864Clinodactyly of the 5th toe
HP:0001962Palpitations
HP:0002650Scoliosis
HP:00046912-3 toe syndactyly
HP:0005135Abnormal T-wave
HP:0005147Bidirectional ventricular ectopy
HP:0005184Prolonged QTc interval
HP:0006335Persistence of primary teeth
HP:0006682Ventricular extrasystoles
HP:0006696Polymorphic and polytopic ventricular extrasystoles
HP:0007215Periodic hyperkalemic paralysis
HP:0011073Abnormality of dental color
HP:0012745Short palpebral fissure
HP:0012758Neurodevelopmental delay
HP:0025072Prominent U wave
HP:0030799Scaphocephaly
HP:0031677Polymorphic ventricular tachycardia
HP:0200055Small hand
Очень редкий (1–4%)3
HP:0000089Renal hypoplasia
HP:0000124Renal tubular dysfunction
HP:0001279Syncope
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | 0.08 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)