Andersen Cardiodysrhythmic Periodic Paralysis
Description
Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).
Clinical Features
Top most frequent phenotypes and symptoms related to Andersen Cardiodysrhythmic Periodic Paralysis
- Seizures
- Short stature
- Microcephaly
- Scoliosis
- Ataxia
- Hypertelorism
- Micrognathia
- Muscle weakness
- Abnormal facial shape
- Cleft palate
And another 81 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Andersen Cardiodysrhythmic Periodic Paralysis Is also known as ats, andersen syndrome, long qt syndrome 7, periodic paralysis, potassium-sensitive cardiodysrhythmic type, lqt7, andersen-tawil syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Andersen Cardiodysrhythmic Periodic Paralysis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Athena Diagnostics Inc (United States).
SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
6 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)
View the complete list with 92 more genes
Specificity
1 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR2, TRDN, CALM1, CASQ2, ANK2, KCNJ2
Specificity
17 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, HCN4, TRPM4, SCN3B, GPD1L, AKAP9, ANK2, KCNE1, KCNE2, KCNE3 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCN4B, SCN5A, SNTA1, CACNA1C, CALM1, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1
Specificity
8 %
Genes
100 % |
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
KCNJ2
Specificity
100 %
Genes
100 % |
You can get up to 188 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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