Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Ttpp2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Ttpp2

KCNJ18

View recommended genes panels

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 %

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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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