"Andersen Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
| Descriptor ID |
D050030
|
| MeSH Number(s) |
C14.280.067.565.070 C14.280.123.625.070 C16.131.240.400.715.070 C23.550.073.547.070
|
| Concept/Terms |
Andersen Syndrome- Andersen Syndrome
- Syndrome, Andersen
- Andersen Cardiodysrhythmic Periodic Paralysis
- Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
- Andersen Tawil Syndrome
- Syndrome, Andersen Tawil
- Long QT Syndrome 7
- Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
- Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type
- Andersen-Tawil Syndrome
- Andersen Cardiodysrythmic Periodic Paralysis
|
Below are MeSH descriptors whose meaning is more general than "Andersen Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Andersen Syndrome".
This graph shows the total number of publications written about "Andersen Syndrome" by people in this website by year, and whether "Andersen Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Andersen Syndrome" by people in Profiles.
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Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient. Cardiovasc Res. 2021 07 07; 117(8):1923-1934.
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A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology. 2014 Mar 25; 82(12):1058-64.