Thyrotoxic Periodic Paralysis, Susceptibility To, 1; Ttpp1

Description

Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP ), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). Genetic Heterogeneity of Thyrotoxic Periodic ParalysisSee also TTPP2 (OMIM ), conferred by variation in the KCNJ18 gene (OMIM ) on chromosome 17p11, and TTPP3 (OMIM ), mapped to chromosome 17q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Thyrotoxic Periodic Paralysis, Susceptibility To, 1; Ttpp1

  • Muscle weakness
  • Hyperreflexia
  • Hypertension
  • Proptosis
  • Hyperhidrosis
  • Weight loss
  • Tachycardia
  • Paralysis
  • Palpitations
  • Goiter
And another 8 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Thyrotoxic Periodic Paralysis, Susceptibility To, 1; Ttpp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
CACNA1S Sequencing.

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

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S Deletion/duplication analysis.

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

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic Periodic Paralysis.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
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 in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S, SCN4A. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN4A, CACNA1S
Specificity
50 %
Genes
100 %
CACNA1S. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes).

By CGC Genetics in Portugal.

SCN4A, CACNA1S
Specificity
50 %
Genes
100 %
Hypokalemic Periodic Paralysis (sequence analysis of CACNA1S gene).

By CGC Genetics in Portugal.

CACNA1S
Specificity
100 %
Genes
100 %
Non-dystrophic myotonias (NGS panel for 11 genes).

By CGC Genetics in Portugal.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1, KCNJ18
Specificity
10 %
Genes
100 %
Primary Periodic Paralysis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 %
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CACNA1S, RYR1, STAC3
Specificity
34 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Malignant Hyperthermia panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Hypokaleimc Periodic Paralysis.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

SCN4A, CACNA1S
Specificity
50 %
Genes
100 %
Malignant Hyperthermia- RYR1, CACNA1S.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Malignant Hyperthermia.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Hyperkalemic Periodic Paralysis Type 1.

By MGZ Medical Genetics Center in Germany.

CACNA1S
Specificity
100 %
Genes
100 %
Periodic Palsy.

By MGZ Medical Genetics Center in Germany.

SCN4A, CACNA1S, RYR1, KCNJ2, KCNE3, KCNJ12
Specificity
17 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Malignant Hyperthermia Susceptibility.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Malignant hyperthermia type 5.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S
Specificity
100 %
Genes
100 %
Malignant hyperthermia panel.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Hypokalemic periodic paralysis type 1.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Thyrotoxic periodic paralysis type 1.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S
Specificity
100 %
Genes
100 %
Non-dystrophic myotonia congenita panel.

By Centogene AG - the Rare Disease Company in Germany.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1
Specificity
10 %
Genes
100 %
Malignant Hyperthermia Panel.

By CeGaT GmbH in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Bartter Syndrome incl. differential diagnosis Panel.

By CeGaT GmbH in Germany.

SCN4A, CACNA1S, KCNJ2, KCNE3, KCNJ5, KCNJ18
Specificity
17 %
Genes
100 %
Periodic paralysis Panel.

By CeGaT GmbH in Germany.

SCN4A, CACNA1S, KCNJ2, KCNE3, KCNJ5
Specificity
20 %
Genes
100 %
Malignant Hyperthermia, CACNA1S.

By GGA - Galil Genetic Analysis in Israel.

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S-Related Malignant Hyperthermia Susceptibility.

By GGA - Galil Genetic Analysis in Israel.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic paralysis, CACNA1S sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic paralysis.

By Praxis fuer Humangenetik Wien in Austria.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic Periodic Paralysis Type 1.

By Medical Genetics Laboratory Hallym University Hangang Sacred Heart Hospital in South Korea.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic paralysis.

By MedGene in Slovakia.

CACNA1S
Specificity
100 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Invitae Malignant Hyperthermia Susceptibility Panel.

By Invitae in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Invitae Hypokalemic Periodic Paralysis Panel.

By Invitae in United States.

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

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Hypokalemic periodic Paralysis: CACNA1S gene sequence analysis.

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

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic Paralysis: SCN4A gene (exon 12), CACNA1S gene (exons 11, 30) screening.

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

SCN4A, CACNA1S
Specificity
50 %
Genes
100 %
Malignant hyperthermia: CACNA1S gene mutation analysis (R1086H).

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

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic periodic Paralysis.

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

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

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

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1, KCNJ18
Specificity
10 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
CACNA1S.

By Fulgent Genetics Fulgent Genetics in United States.

CACNA1S
Specificity
100 %
Genes
100 %
Periodic Paralysis Panel.

By Blueprint Genetics in Finland.

CLCN1, SCN4A, CACNA1S, KCNJ2
Specificity
25 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypokalemic periodic paralysis, type 1.

By Bioarray in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
PERIODIC PARALYSIS, HYPOKALEMIC.

By Laboratorio de Genetica Clinica SL in Spain.

SCN4A, CACNA1S, KCNJ2, KCNJ18
Specificity
25 %
Genes
100 %
MALIGNANT HYPERTHERMIASUSCEPTIBILITY TYPE 5.

By Laboratorio de Genetica Clinica SL in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
PERIODIC PARALYSIS, THYROTOXIC.

By Laboratorio de Genetica Clinica SL in Spain.

CACNA1S, KCNJ18
Specificity
50 %
Genes
100 %
Hypokalemic Periodic Paralysis , Sequencing CACNA1S Gene.

By Reference Laboratory Genetics in Spain.

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic Periodic Paralysis , Panel Massive Sequencing (NGS) CACNA1S and SCN4A Genes.

By Reference Laboratory Genetics in Spain.

SCN4A, CACNA1S
Specificity
50 %
Genes
100 %
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3
Specificity
12 %
Genes
100 %
Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes.

By Reference Laboratory Genetics in Spain.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Hypokalemic Periodic Paralysis: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SCN4A, CACNA1S, KCNJ18
Specificity
34 %
Genes
100 %
Malignant Hyperthermia Susceptibility: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %


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