Hypokalemic periodic paralysis
ORPHA:681DiseaseAutosomal dominantAdolescent, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN4A | sodium voltage-gated channel alpha subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 603967 |
| CACNA1S | calcium voltage-gated channel subunit alpha1 S | Disease-causing germline mutation(s) in | gene with protein product | 114208 |
| KCNE3 | potassium voltage-gated channel subfamily E regulatory subunit 3 | Candidate gene tested in | gene with protein product | 604433 |
Фенотипы (HPO)22
Облигатный (100%)2
HP:0008153Periodic hypokalemic paresis
HP:0012726Episodic hypokalemia
Очень частый (80–99%)6
HP:0003457EMG abnormality
HP:0003470Paralysis
HP:0003752Episodic flaccid weakness
HP:0004303Abnormal muscle fiber morphology
HP:0008180Mildly elevated creatine kinase
HP:0012240Increased intramyocellular lipid droplets
Частый (30–79%)3
HP:0001315Reduced tendon reflexes
HP:0009020Exercise-induced muscle fatigue
HP:0011998Postprandial hyperglycemia
Периодический (5–29%)6
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003394Muscle spasm
HP:0003694Late-onset proximal muscle weakness
HP:0011675Arrhythmia
HP:0012531Pain
HP:0012548Fatty replacement of skeletal muscle
Очень редкий (1–4%)3
HP:0002203Respiratory paralysis
HP:0008256Adrenocortical adenoma
HP:0030196Fatigable weakness of respiratory muscles
Исключён (0%)2
HP:0002486Myotonia
HP:0006670Impaired myocardial contractility
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.53 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)