Details of Disease

General Information of Disease (ID: DISNG0P4)

Disease Name Thrombocytosis disease
Synonyms thrombocytosis; elevated Platelet count; Thrombocythaemia; Platelet count increased
Definition A disease characterized by higher than normal platelet counts in the peripheral blood.
Disease Hierarchy
DISOOSU2: Blood platelet disease
DISNG0P4: Thrombocytosis disease
Disease Identifiers
MONDO ID
MONDO_0002249
MESH ID
D013922
UMLS CUI
C0836924
MedGen ID
163397
HPO ID
HP:0001894
SNOMED CT ID
6631009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TPO TT52XDZ Limited Altered Expression [1]
ABL1 TT6B75U moderate Biomarker [2]
SF3B1 TTL2WUI moderate Genetic Variation [3]
CALR TTUZ7OA Strong Genetic Variation [4]
CSNK1A1 TTFQEMX Strong Biomarker [5]
MUC16 TTC1PS3 Strong Biomarker [6]
NAAA TTMN4HY Strong Genetic Variation [7]
JAK2 TTRMX3V Definitive Genetic Variation [8]
------------------------------------------------------------------------------------
⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NFE2 OTLM94BI moderate Altered Expression [9]
BCR OTCN76C1 Strong Biomarker [2]
BLVRB OTHCFN2C Strong Genetic Variation [10]
CD177 OTS79FNF Strong Altered Expression [11]
DAAM1 OT0VHIYZ Strong Biomarker [12]
HLA-DPA1 OT7OG7Y2 Strong Biomarker [13]
KANK1 OT2E7A6W Strong Biomarker [14]
PRB1 OTV0SYMD Strong Biomarker [15]
RARS1 OTHPZ6JN Strong Biomarker [16]
SLU7 OTZUUICN Strong Genetic Variation [17]
TRNT1 OTD57ILL Definitive Genetic Variation [18]
------------------------------------------------------------------------------------
⏷ Show the Full List of 11 DOT(s)

References

1 Thrombopoietin levels increased in patients with severe acute respiratory syndrome.Thromb Res. 2008;122(4):473-7. doi: 10.1016/j.thromres.2007.12.021. Epub 2008 Mar 7.
2 A Rare Case of Pediatric Chronic Myelogenous Leukemia Presenting With Severe Thrombocytosis Without Leukocytosis.Pediatr Dev Pathol. 2018 Jan-Feb;21(1):100-104. doi: 10.1177/1093526617698601. Epub 2017 Mar 20.
3 Revisiting diagnostic criteria for myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Borderline cases without anemia exist.Int J Lab Hematol. 2019 Jun;41(3):345-352. doi: 10.1111/ijlh.12981. Epub 2019 Feb 27.
4 Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression.Br J Haematol. 2020 Mar;188(6):935-944. doi: 10.1111/bjh.16276. Epub 2019 Nov 11.
5 Molecular pathogenesis of myelodysplastic syndromes with deletion 5q.Eur J Haematol. 2019 Mar;102(3):203-209. doi: 10.1111/ejh.13207. Epub 2019 Jan 16.
6 Diagnostic Accuracy of Clinical Biomarkers for Preoperative Prediction of Lymph Node Metastasis in Endometrial Carcinoma: A Systematic Review and Meta-Analysis.Oncologist. 2019 Sep;24(9):e880-e890. doi: 10.1634/theoncologist.2019-0117. Epub 2019 Jun 11.
7 Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts.J Hematol Oncol. 2014 Dec 7;7:89. doi: 10.1186/s13045-014-0089-x.
8 Essential thrombocytosis attributed to JAK2-T875N germline mutation.Int J Hematol. 2019 Nov;110(5):584-590. doi: 10.1007/s12185-019-02725-8. Epub 2019 Aug 19.
9 A role of NF-E2 in chronic inflammation and clonal evolution in essential thrombocythemia, polycythemia vera and myelofibrosis?.Leuk Res. 2014 Feb;38(2):263-6. doi: 10.1016/j.leukres.2013.07.002. Epub 2013 Aug 9.
10 BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans.Blood. 2016 Aug 4;128(5):699-709. doi: 10.1182/blood-2016-02-696997. Epub 2016 May 16.
11 Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin.Blood. 2003 Apr 15;101(8):3294-301. doi: 10.1182/blood-2002-07-2287. Epub 2002 Dec 19.
12 Systematic analysis of microRNA fingerprints in thrombocythemic platelets using integrated platforms.Blood. 2012 Oct 25;120(17):3575-85. doi: 10.1182/blood-2012-02-411264. Epub 2012 Aug 6.
13 Analysis of clinical characteristics and efficacy of chronic myeloid leukemia onset with extreme thrombocytosis in the era of tyrosine kinase inhibitors.Onco Targets Ther. 2017 Jul 17;10:3515-3520. doi: 10.2147/OTT.S142587. eCollection 2017.
14 Multiple oligomerization domains of KANK1-PDGFR are required for JAK2-independent hematopoietic cell proliferation and signaling via STAT5 and ERK.Haematologica. 2011 Oct;96(10):1406-14. doi: 10.3324/haematol.2011.040147. Epub 2011 Jun 17.
15 Prefibrotic myelofibrosis: treatment algorithm 2018.Blood Cancer J. 2018 Nov 7;8(11):104. doi: 10.1038/s41408-018-0142-z.
16 Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.Blood. 2010 Jul 15;116(2):180-2. doi: 10.1182/blood-2010-01-263087. Epub 2010 Mar 1.
17 Mutations in Splicing Factor Genes in Myeloid Malignancies: Significance and Impact on Clinical Features.Cancers (Basel). 2019 Nov 22;11(12):1844. doi: 10.3390/cancers11121844.
18 Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23.