Thrombocythemia 1; Thcyt1

Description

Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of ThrombocythemiaTHCYT2 (OMIM ) is caused by germline or somatic mutation in the THPO receptor gene (MPL ) on chromosome 1p34; THCYT3 (OMIM ) is caused by germline or somatic mutation in the JAK2 gene (OMIM ) on chromosome 9p; and a possible X-linked form (THCYTX ) has been reported.Somatic mutations in the TET2 (OMIM ), ASXL1 (OMIM ), SH2B3 (OMIM ), and SF3B1 (OMIM ) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (OMIM ) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013).

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombocythemia 1; Thcyt1

  • Milia
  • Hepatomegaly
  • Hypertension
  • Tics
  • Splenomegaly
  • Abnormality of the skeletal system
  • Hepatosplenomegaly
  • Leukemia
  • Lymphoma
  • Myocardial infarction
And another 10 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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Thrombocythemia 1; Thcyt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
THPO Sequencing.

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

THPO
Specificity
100 %
Genes
34 %
Thrombocythemia 1 (sequence analysis of THPO gene).

By CGC Genetics in Portugal.

THPO
Specificity
100 %
Genes
34 %
Familial thrombocytosis (deletions/duplications analysis of THPO gene).

By CGC Genetics in Portugal.

THPO
Specificity
100 %
Genes
34 %
Familial thrombocytosis (deletions/duplications analysis of THPO gene).

By CGC Genetics in Portugal.

THPO
Specificity
100 %
Genes
34 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Hereditary Thrombocythemia via THPO Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

THPO
Specificity
100 %
Genes
34 %
THPO.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

THPO
Specificity
100 %
Genes
34 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
THPO.

By Fulgent Genetics Fulgent Genetics in United States.

THPO
Specificity
100 %
Genes
34 %
Platelet Function Disorder Panel.

By Blueprint Genetics in Finland.

RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, THPO, GP1BA, TBXA2R, P2RY12, NBEAL2, ITGB3, ITGA2B, GP1BB, WIPF1, GP9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
34 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
34 %
Inherited Bone Marrow Failure Panel.

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

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
34 %
FAMILIAL THROMBOCYTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

MPL, THPO
Specificity
50 %
Genes
34 %
Familial Thrombocytosis , Sequencing THPO Gene.

By Reference Laboratory Genetics in Spain.

THPO
Specificity
100 %
Genes
34 %
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 %
Calreticulin, Exon 9 Mutation Analysis.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

CALR
Specificity
100 %
Genes
34 %
CALR Exon 9 Mutation Analysis.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

CALR
Specificity
100 %
Genes
34 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
CALR gene (sequence analysis of exon 9).

By CGC Genetics in Portugal.

CALR
Specificity
100 %
Genes
34 %
Sequence analysis of CALR gene.

By CGC Genetics in Portugal.

CALR
Specificity
100 %
Genes
34 %
JAK2 and CALR targeted mutation testing.

By Molecular Diagnostics Laboratory University Health Network in Canada.

CALR
Specificity
100 %
Genes
34 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
CALR, selective sequencing of exon 9.

By Centogene AG - the Rare Disease Company in Germany.

CALR
Specificity
100 %
Genes
34 %
Schizophrenia, CALR related.

By Centogene AG - the Rare Disease Company in Germany.

CALR
Specificity
100 %
Genes
34 %
CALR Mutation Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

CALR
Specificity
100 %
Genes
34 %
Myeloproliferative disorders: Exon 9 CARL gene.

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

CALR
Specificity
100 %
Genes
34 %
Myelofibrosis NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

MPL, SH2B3, CALR, JAK2
Specificity
50 %
Genes
67 %
CALR.

By Fulgent Genetics Fulgent Genetics in United States.

CALR
Specificity
100 %
Genes
34 %
CALR Mutation Analysis.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

CALR
Specificity
100 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Focus::MPN™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Focus::AML™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
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
67 %
ESSENTIAL THROMBOCYTOSIS (ESSENTIAL THROMBOCYTHEMIA).

By Laboratorio de Genetica Clinica SL in Spain.

MPL, CALR, JAK2
Specificity
34 %
Genes
34 %
Essential Thrombocythemia , Mutations CALR Gene.

By Reference Laboratory Genetics in Spain.

CALR
Specificity
100 %
Genes
34 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
34 %
Somatic Myelofibrosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

MPL, SH2B3, CALR, JAK2
Specificity
50 %
Genes
67 %
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
67 %
Juvenile Myelomonocytic Leukemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

KRAS, NRAS, PTPN11, CBL, NF1, SETBP1, ASXL1, JAK3, SH2B3
Specificity
12 %
Genes
34 %
Erythrocytosis, somatic (sequence analysis of SH2B3 gene).

By CGC Genetics in Portugal.

SH2B3
Specificity
100 %
Genes
34 %
Erythrocytosis, familial type 1.

By Centogene AG - the Rare Disease Company in Germany.

SH2B3
Specificity
100 %
Genes
34 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS in Spain.

VHL, SH2B3, JAK2, EPOR, EPAS1, EGLN1, BPGM
Specificity
15 %
Genes
34 %
NGS HemeOnc Panel.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, DNMT3A, EZH2, KIT, ASXL1, SH2B3, FLT3, NPM1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
SH2B3.

By Fulgent Genetics Fulgent Genetics in United States.

SH2B3
Specificity
100 %
Genes
34 %

Alternate names

Thrombocythemia 1; Thcyt1 Is also known as thrombocytosis 1.



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