Thyrotoxic Periodic Paralysis

Table of contents:

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

Description

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

Genes related to Thyrotoxic Periodic Paralysis

CACNA1S
GABRA3
KCNJ18

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Clinical Features

Top most frequent phenotypes and symptoms related to Thyrotoxic Periodic Paralysis

Muscle weakness
Hypertension
Hyperreflexia
Tremor
Obesity
Hyporeflexia
Constipation
Hyperhidrosis
Weight loss
Proptosis

And another 43 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

Thyrotoxic Periodic Paralysis Is also known as thyrotoxic hypokalemic periodic paralysis.

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 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). RYR1, CACNA1S Specificity 50 % Genes 34 %
Periodic Paralysis Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CACNA1S, KCNJ2 Specificity 34 % Genes 34 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 34 %
CACNA1S Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CACNA1S Specificity 100 % Genes 34 %
CACNA1S Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CACNA1S Specificity 100 % Genes 34 %
Hypokalemic Periodic Paralysis. By Molecular Diagnostic Laboratory University of Alberta (Canada). CACNA1S Specificity 100 % Genes 34 %
CACNA1S. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CACNA1S Specificity 100 % Genes 34 %
CACNA1S. Detection of the mutations p.Arg528His, p.Arg528Gly, p.Arg897Ser, p.Arg1239His and p.Arg1239Gly by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CACNA1S Specificity 100 % Genes 34 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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