Hyperthyroidism, Familial Gestational

Description

Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperthyroidism, Familial Gestational

  • Motor delay
  • Tremor
  • Diarrhea
  • Vomiting
  • Hyperactivity
  • Proptosis
  • Hyperhidrosis
  • Weight loss
  • Nausea and vomiting
  • Sleep disturbance
And another 12 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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Hyperthyroidism, Familial Gestational Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TSHR Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TSHR
Specificity
100 %
Genes
100 %
TSHR Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TSHR
Specificity
100 %
Genes
100 %
TSHR Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TSHR
Specificity
100 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, TSHR, SDHD, MAX, PRKAR1A, CDC73
Specificity
7 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
TSHR mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TSHR
Specificity
100 %
Genes
100 %
TSHR. Complete Sequencing.

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

TSHR
Specificity
100 %
Genes
100 %
TSHR. Sequencing of the exon 10.

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

TSHR
Specificity
100 %
Genes
100 %
Hypothyroidism congenital nongoitrous 1 (sequence analysis of TSHR gene).

By CGC Genetics in Portugal.

TSHR
Specificity
100 %
Genes
100 %
Hyperthyroidism, Nonautoimmune.

By Exeter Molecular Genetics Laboratory in United Kingdom.

TSHR
Specificity
100 %
Genes
100 %
Hypothyroidism, Congenital.

By Exeter Molecular Genetics Laboratory in United Kingdom.

TSHR
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene.

By PreventionGenetics PreventionGenetics in United States.

TSHR
Specificity
100 %
Genes
100 %
Hypothyroidism congenital nongoitrous type 1.

By Centogene AG - the Rare Disease Company in Germany.

TSHR
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Single gene testing TSHR.

By CeGaT GmbH in Germany.

TSHR
Specificity
100 %
Genes
100 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hypothyroidism, Congenital: TSHR gene sequence analysis.

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

TSHR
Specificity
100 %
Genes
100 %
Hyperthyroidism, Nonautoimmune: TSHR gene sequence analysis.

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

TSHR
Specificity
100 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM.

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

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Thyroid dyshormonogenesis.

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

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
10 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
TSHR.

By Fulgent Genetics Fulgent Genetics in United States.

TSHR
Specificity
100 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Familial non-immune hyperthyroidism.

By Bioarray in Spain.

TSHR
Specificity
100 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TSHR, NKX2-5, PAX8, TSHB, THRA
Specificity
20 %
Genes
100 %
TSHR Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TSHR
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM.

By Laboratorio de Genetica Clinica SL in Spain.

IYD, TSHR, TSHB, THRA, DUOXA2, SLC5A5, TPO, TG
Specificity
13 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC26A4, IYD, TSHR, NKX2-1, NKX2-5, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG
Specificity
8 %
Genes
100 %
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

TSHR, NKX2-1, NKX2-5, PAX8, FOXE1
Specificity
20 %
Genes
100 %
Congenital Hypothyroidism , Sequencing TSHR Gene.

By Reference Laboratory Genetics in Spain.

TSHR
Specificity
100 %
Genes
100 %
Familial Non-Autoimmune Hyperthyroidism , Sequencing TSHR Gene.

By Reference Laboratory Genetics in Spain.

TSHR
Specificity
100 %
Genes
100 %
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
10 %
Genes
100 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
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 %
Congenital hypothyroidism: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSHR, THRB, PAX8, TSHB, THRA, DUOX2, SLC5A5, TPO, TG
Specificity
12 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Congenital nongoitrous hypothyroidism 1: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSHR
Specificity
100 %
Genes
100 %
Familial gestational hyperthyroidism: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSHR
Specificity
100 %
Genes
100 %
Nonautoimmune hyperthyroidism: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSHR
Specificity
100 %
Genes
100 %


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