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.

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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.


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Andersen Cardiodysrhythmic Periodic Paralysis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 %
Comprehensive Cardiac Panel.

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 %
Long QT Syndrome Panel.

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 %
Cardiomyopathy Panel.

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 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, TRDN, CALM1, CASQ2, ANK2, KCNJ2
Specificity
17 %
Genes
100 %
Comprehensive Arrhythmias Panel.

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 %
Long QT Syndrome and Short QT Syndrome.

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 %
KCNJ2 Sequencing.

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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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