Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Ttpp2

Clinical Features

Phenotypes and symptoms related to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Ttpp2

  • Muscle weakness
  • Paralysis
  • Tachycardia
  • Palpitations
  • Goiter
  • Hypokalemia
  • Hyperthyroidism
  • Periodic paralysis

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.

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.

Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Ttpp2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KCNJ18 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KCNJ18
Specificity
100 %
Genes
100 %
KCNJ18. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KCNJ18
Specificity
100 %
Genes
100 %
Thyrotoxic periodic paralysis type 2 (sequence analysis of KCNJ18 gene).

By CGC Genetics (Portugal).

KCNJ18
Specificity
100 %
Genes
100 %
Non-dystrophic myotonias (NGS panel for 11 genes).

By CGC Genetics (Portugal).

SCN4A, CACNA1A, CACNA1S, CAV3, CLCN1, KCNJ18, HINT1, HSPG2, KCNA1, KCNE3, ATP2A1
Specificity
10 %
Genes
100 %
Thyrotoxic periodic paralysis type 2.

By Centogene AG - the Rare Disease Company (Germany).

KCNJ18
Specificity
100 %
Genes
100 %
Bartter Syndrome incl. differential diagnosis Panel.

By CeGaT GmbH (Germany).

SCN4A, CACNA1S, KCNJ18, KCNE3, KCNJ2, KCNJ5
Specificity
17 %
Genes
100 %
Hypokalemic periodic Paralysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SCN4A, CACNA1S, KCNJ18
Specificity
34 %
Genes
100 %
Non-dystrophic myotonias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SCN4A, CACNA1A, CACNA1S, CAV3, CLCN1, KCNJ18, HINT1, HSPG2, KCNA1, KCNE3, ATP2A1
Specificity
10 %
Genes
100 %

You can get up to 4 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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