Thyrotoxic periodic paralysis
ORPHA:79102DiseaseMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CACNA1S | calcium voltage-gated channel subunit alpha1 S | Candidate gene tested in | gene with protein product | 114208 |
| GABRA3 | gamma-aminobutyric acid type A receptor subunit alpha3 | Major susceptibility factor in | gene with protein product | 305660 |
| KCNJ18 | potassium inwardly rectifying channel subfamily J member 18 | Major susceptibility factor in | gene with protein product | 613236 |
Фенотипы (HPO)42
Облигатный (100%)3
HP:0000836Hyperthyroidism
HP:0008153Periodic hypokalemic paresis
HP:0012726Episodic hypokalemia
Очень частый (80–99%)18
HP:0000975Hyperhidrosis
HP:0001513Obesity
HP:0001962Palpitations
HP:0002445Tetraplegia
HP:0002917Hypomagnesemia
HP:0003457EMG abnormality
HP:0003470Paralysis
HP:0003752Episodic flaccid weakness
HP:0004303Abnormal muscle fiber morphology
HP:0007340Lower limb muscle weakness
HP:0008180Mildly elevated creatine kinase
HP:0008285Transient hypophosphatemia
HP:0011784Thyrotoxicosis with diffuse goiter
HP:0011785Thyrotoxicosis with toxic multinodular goitre
HP:0011786Thyrotoxicosis with toxic single thyroid nodule
HP:0012240Increased intramyocellular lipid droplets
HP:0012364Decreased urinary potassium
HP:0100647Graves disease
Частый (30–79%)10
HP:0002019Constipation
HP:0003201Rhabdomyolysis
HP:0003394Muscle spasm
HP:0003552Muscle stiffness
HP:0009020Exercise-induced muscle fatigue
HP:0011998Postprandial hyperglycemia
HP:0000016Urinary retention
HP:0001265Hyporeflexia
HP:0001337Tremor
HP:0001824Weight loss
Периодический (5–29%)5
HP:0001657Prolonged QT interval
HP:0001663Ventricular fibrillation
HP:0003694Late-onset proximal muscle weakness
HP:0005165Shortened PR interval
HP:0011706Second degree atrioventricular block
Очень редкий (1–4%)3
HP:0000597Ophthalmoparesis
HP:0002153Hyperkalemia
HP:0002203Respiratory paralysis
Исключён (0%)3
HP:0002486Myotonia
HP:0003134Abnormality of peripheral nerve conduction
HP:0006670Impaired myocardial contractility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)