THC5
MCID: ETV001
MIFTS: 31

Etv6 Thrombocytopenia and Predisposition to Leukemia (THC5)

Categories: Blood diseases, Cancer diseases, Genetic diseases

Aliases & Classifications for Etv6 Thrombocytopenia and Predisposition to Leukemia

MalaCards integrated aliases for Etv6 Thrombocytopenia and Predisposition to Leukemia:

Name: Etv6 Thrombocytopenia and Predisposition to Leukemia 25
Etv6-Linked Leukemia / Familial Thrombocytopenia Syndrome 25
Thrombocytopenia 5 25
Thc5 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of thrombocytopenia in this disorder is thought to exceed 90%....

Classifications:



Summaries for Etv6 Thrombocytopenia and Predisposition to Leukemia

MalaCards based summary : Etv6 Thrombocytopenia and Predisposition to Leukemia, also known as etv6-linked leukemia / familial thrombocytopenia syndrome, is related to b-lymphoblastic leukemia/lymphoma and thrombocytopenia. An important gene associated with Etv6 Thrombocytopenia and Predisposition to Leukemia is CBFB (Core-Binding Factor Subunit Beta), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Endometrial cancer. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are cellular and growth/size/body region

GeneReviews: NBK564234

Related Diseases for Etv6 Thrombocytopenia and Predisposition to Leukemia

Diseases related to Etv6 Thrombocytopenia and Predisposition to Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 b-lymphoblastic leukemia/lymphoma 30.4 KIT FLT3 ETV6
2 thrombocytopenia 28.3 TERT RUNX1 NPM1 KRAS KIT JAK2
3 leukemia, acute lymphoblastic 28.1 RUNX1 PICALM NUP214 MLLT10 KRAS KIT
4 thrombocytopenia 5 11.6
5 acute myeloblastic leukemia without maturation 10.2 NPM1 FLT3
6 immunodeficiency 21 10.2 GATA2 FLT3 CEBPA
7 sm-ahnmd 10.1 KIT JAK2 CHIC2
8 mastocytosis 10.1 KIT JAK2 FLT3
9 cytogenetically normal acute myeloid leukemia 10.1 NPM1 FLT3 CEBPA
10 mixed phenotype acute leukemia with t 10.1 RUNX1 DNMT3A
11 acute myeloblastic leukemia with maturation 10.1 NPM1 KIT FLT3
12 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.0 KIT JAK2 ETV6 CHIC2
13 myeloid sarcoma 10.0 NPM1 KIT FLT3
14 systemic mastocytosis 10.0 KIT JAK2 DNMT3A CHIC2
15 discrete subaortic stenosis 10.0 PICALM MLLT10
16 chronic leukemia 10.0 KIT JAK2 FLT3 DNMT3A
17 polycythemia vera 10.0 KIT JAK2 ETV6 DNMT3A
18 seminal vesicle adenocarcinoma 10.0 KRAS KIT
19 leukemia, acute lymphoblastic 3 10.0 RUNX1 FLT3 ETV6
20 refractory anemia 10.0 RUNX1 JAK2
21 monocytic leukemia 9.9 RUNX1 MLLT10 FLT3
22 childhood acute myeloid leukemia 9.9 NPM1 KIT FLT3 DNMT3A
23 8p11 myeloproliferative syndrome 9.9 RUNX1 KIT FLT3
24 plasma cell neoplasm 9.9 KRAS FLT3 DNMT3A
25 mental retardation, autosomal dominant 33 9.9 JAK2 ETV6
26 differentiated thyroid carcinoma 9.9 TERT KRAS ETV6
27 myelodysplastic/myeloproliferative neoplasm 9.9 KIT JAK2 FLT3 ETV6 DNMT3A
28 chronic eosinophilic leukemia 9.9 KIT JAK2 FLT3 ETV6 CHIC2
29 aggressive systemic mastocytosis 9.9 RUNX1 KIT FLT3
30 gastrointestinal stromal tumor 9.9 KRAS KIT JAK2 FLT3
31 acute myeloid leukemia with t(8;21)(q22;q22) translocation 9.8 RUNX1 KIT FLT3 CEBPA
32 atypical chronic myeloid leukemia 9.8 RUNX1 JAK2 FLT3 ETV6
33 thyroid gland follicular carcinoma 9.8 TERT KRAS KIT ETV6
34 li-fraumeni syndrome 9.8 TERT KRAS ETV6
35 germ cell cancer 9.8 TERT KRAS KIT
36 bone marrow cancer 9.8 NPM1 KIT JAK2 FLT3 DNMT3A
37 myeloma, multiple 9.8 KRAS KIT JAK2 FLT3 DNMT3A
38 blood platelet disease 9.8 RUNX1 KIT JAK2 FLT3
39 childhood acute lymphocytic leukemia 9.7 RUNX1 KRAS FLT3 ETV6
40 essential thrombocythemia 9.7 TERT KRAS KIT JAK2
41 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.7 RUNX1 KIT FLT3 ETV6 CBFB
42 down syndrome 9.7 RUNX1 JAK2 FLT3 ETV6
43 t-cell acute lymphoblastic leukemia 9.6 RUNX1 NUP214 FLT3 ETV6 DNMT3A
44 precursor t-cell acute lymphoblastic leukemia 9.6 PICALM NUP214 MLLT10 FLT3 ETV6
45 wilms tumor 1 9.6 TERT NPM1 KRAS FLT3 CEBPA
46 diamond-blackfan anemia 9.6 TERT NPM1 KIT JAK2 GATA2
47 myeloproliferative neoplasm 9.5 RUNX1 KIT JAK2 FLT3 ETV6 DNMT3A
48 juvenile myelomonocytic leukemia 9.5 RUNX1 KRAS JAK2 FLT3 ETV6 DNMT3A
49 acute megakaryocytic leukemia 9.5 RUNX1 MLLT10 KIT JAK2 GATA2 FLT3
50 core binding factor acute myeloid leukemia 9.4 RUNX1 KRAS KIT JAK2 FLT3 CEBPA

Graphical network of the top 20 diseases related to Etv6 Thrombocytopenia and Predisposition to Leukemia:



Diseases related to Etv6 Thrombocytopenia and Predisposition to Leukemia

Symptoms & Phenotypes for Etv6 Thrombocytopenia and Predisposition to Leukemia

MGI Mouse Phenotypes related to Etv6 Thrombocytopenia and Predisposition to Leukemia:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
2 growth/size/body region MP:0005378 10.39 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3
3 hematopoietic system MP:0005397 10.34 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3
4 mortality/aging MP:0010768 10.32 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3
5 embryo MP:0005380 10.31 CBFB DNMT3A ETV6 GATA2 JAK2 KIT
6 cardiovascular system MP:0005385 10.3 CBFB CEBPA CHIC2 ETV6 GATA2 JAK2
7 endocrine/exocrine gland MP:0005379 10.3 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3
8 homeostasis/metabolism MP:0005376 10.29 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
9 immune system MP:0005387 10.23 CBFB CEBPA CHIC2 ETV6 FLT3 JAK2
10 liver/biliary system MP:0005370 10.14 CBFB CEBPA ETV6 GATA2 JAK2 KIT
11 integument MP:0010771 10.13 CBFB CEBPA CHIC2 ETV6 JAK2 KIT
12 neoplasm MP:0002006 10.02 CBFB CEBPA ETV6 FLT3 JAK2 KIT
13 normal MP:0002873 9.85 CBFB CEBPA ETV6 GATA2 JAK2 KIT
14 no phenotypic analysis MP:0003012 9.8 CBFB CEBPA ETV6 FLT3 KIT KRAS
15 reproductive system MP:0005389 9.61 CEBPA CHIC2 DNMT3A GATA2 JAK2 KIT
16 respiratory system MP:0005388 9.23 CBFB CEBPA JAK2 KIT KRAS RUNX1

Drugs & Therapeutics for Etv6 Thrombocytopenia and Predisposition to Leukemia

Search Clinical Trials , NIH Clinical Center for Etv6 Thrombocytopenia and Predisposition to Leukemia

Genetic Tests for Etv6 Thrombocytopenia and Predisposition to Leukemia

Anatomical Context for Etv6 Thrombocytopenia and Predisposition to Leukemia

MalaCards organs/tissues related to Etv6 Thrombocytopenia and Predisposition to Leukemia:

40
Bone Marrow, Bone, Myeloid

Publications for Etv6 Thrombocytopenia and Predisposition to Leukemia

Articles related to Etv6 Thrombocytopenia and Predisposition to Leukemia:

(show top 50) (show all 94)
# Title Authors PMID Year
1
ETV6 gene aberrations in non-haematological malignancies: A review highlighting ETV6 associated fusion genes in solid tumors. 25
32659251 2020
2
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. 25
31519648 2019
3
ETV6-related thrombocytopenia and leukemia predisposition. 25
31248877 2019
4
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report. 25
30950205 2019
5
Germline deletion of ETV6 in familial acute lymphoblastic leukemia. 25
30940639 2019
6
Inherited platelet disorders : Management of the bleeding risk. 25
30077511 2018
7
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. 25
28572263 2017
8
ETV6 in hematopoiesis and leukemia predisposition. 25
28637624 2017
9
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. 25
27663637 2017
10
Timing, rates and spectra of human germline mutation. 25
26656846 2016
11
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 25
26522332 2015
12
Redefining ALL classification: toward detecting high-risk ALL and implementing precision medicine. 25
25999453 2015
13
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. 25
26102509 2015
14
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
15
Inherited predisposition to acute myeloid leukemia. 25
25311743 2014
16
Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. 25
21098271 2010
17
Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. 25
15371326 2004
18
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia. 25
8639909 1996
19
A multicenter phase II study of TAS-114 in combination with S-1 in patients with pretreated advanced gastric cancer (EPOC1604). 61
32700159 2021
20
ETV6 Thrombocytopenia and Predisposition to Leukemia 61
33226740 2020
21
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial. 61
32492087 2020
22
Multi-centre, three arm, randomized controlled trial on the use of methylprednisolone and unfractionated heparin in critically ill ventilated patients with pneumonia from SARS-CoV-2 infection: A structured summary of a study protocol for a randomised controlled trial. 61
32807241 2020
23
Immature platelet fraction: A useful marker for identifying the cause of thrombocytopenia and predicting platelet recovery. 61
32049816 2020
24
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support: Review of the literature and alternative anticoagulants. 61
31313454 2019
25
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial. 61
31474354 2019
26
Hemophagocytosis and Histoplasma-like fungal infection in 32 cats. 61
31175684 2019
27
A phase II evaluation of sunitinib in the treatment of persistent or recurrent clear cell ovarian carcinoma: An NRG Oncology/Gynecologic Oncology Group Study (GOG-254). 61
29921512 2018
28
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support in pediatric patients: review of the literature and alternative anticoagulants. 61
29788841 2018
29
Germline ETV6 mutations and predisposition to hematological malignancies. 61
28555414 2017
30
Gemcitabine, dexamethasone, and cisplatin (GDP) as salvage chemotherapy for patients with relapsed or refractory peripheral T cell lymphoma-not otherwise specified. 61
27858107 2017
31
Safety, efficacy and pharmacokinetics of humanized anti-CD52 monoclonal antibody alemtuzumab in Japanese patients with relapsed or refractory B-cell chronic lymphocytic leukemia. 61
28122892 2017
32
Thrombotic thrombocytopenic purpura in the course of systemic lupus erythematosus in a 15-year-old girl. 61
29472821 2017
33
Ofatumumab in poor-prognosis chronic lymphocytic leukemia: a phase IV, non-interventional, observational study from the European Research Initiative on Chronic Lymphocytic Leukemia. 61
25596264 2015
34
A Phase II trial of docetaxel and carboplatin administered every 2 weeks as preoperative therapy for stage II or III breast cancer: NCCTG study N0338. 61
22868240 2013
35
A retrospective study of chemotherapy with cisplatin plus gemcitabine after the failure of gemcitabine monotherapy for biliary tract cancer. 61
23619988 2013
36
Bortezomib plus rituximab versus rituximab in patients with high-risk, relapsed, rituximab-naïve or rituximab-sensitive follicular lymphoma: subgroup analysis of a randomized phase 3 trial. 61
23088650 2012
37
Referrals for suspected hematologic malignancy: a survey of primary care physicians. 61
22473854 2012
38
[Analysis on the diagnosis and treatment of a cluster of cases infected by new bunyavirus]. 61
22490190 2012
39
[Laboratory investigations in acute olanzapine poisonings]. 61
22010428 2011
40
Phase II study of sunitinib malate in head and neck squamous cell carcinoma. 61
19649772 2010
41
An outbreak of dengue fever in St. Croix (US Virgin Islands), 2005. 61
21060852 2010
42
Emergency department awareness of heparin-induced thrombocytopenia: how frequently is risk assessment documented in patients with thrombosis? 61
20522721 2010
43
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. 61
20652968 2010
44
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. 61
20435624 2010
45
Safety and efficacy of single-day GemOx regimen in patients with pancreatobiliary cancer: a single institution experience. 61
20095915 2010
46
A phase II study of gemcitabine and oxaliplatin (Oxigem) in unresectable gall bladder cancer. 61
19575200 2010
47
Triweekly oxaliplatin plus oral capecitabine as first-line chemotherapy in elderly patients with advanced gastric cancer. 61
19581793 2009
48
Phase II trial of S-1 in combination with gemcitabine for chemo-naïve patients with locally advanced or metastatic pancreatic cancer. 61
19151975 2009
49
Thrombocytopenia, an important interfering factor of antiviral therapy and hepatocellular carcinoma treatment for chronic liver diseases. 61
20103996 2009
50
Phase IIb multicenter trial of vorinostat in patients with persistent, progressive, or treatment refractory cutaneous T-cell lymphoma. 61
17577020 2007

Variations for Etv6 Thrombocytopenia and Predisposition to Leukemia

Expression for Etv6 Thrombocytopenia and Predisposition to Leukemia

Search GEO for disease gene expression data for Etv6 Thrombocytopenia and Predisposition to Leukemia.

Pathways for Etv6 Thrombocytopenia and Predisposition to Leukemia

GO Terms for Etv6 Thrombocytopenia and Predisposition to Leukemia

Cellular components related to Etv6 Thrombocytopenia and Predisposition to Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 TERT RUNX1 NUP214 NPM1 MLLT10 JAK2
2 nucleus GO:0005634 9.8 TERT RUNX1 PICALM NUP214 NPM1 MLLT10
3 core-binding factor complex GO:0016513 8.62 RUNX1 CBFB

Biological processes related to Etv6 Thrombocytopenia and Predisposition to Leukemia according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.18 RUNX1 NPM1 KIT GATA2 ETV6 CEBPA
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 RUNX1 GATA2 ETV6 DNMT3A CEBPA CBFB
3 positive regulation of cell proliferation GO:0008284 9.97 NPM1 KRAS KIT JAK2 FLT3
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 RUNX1 NPM1 MLLT10 GATA2 ETV6 CEBPA
5 negative regulation of gene expression GO:0010629 9.92 TERT RUNX1 PICALM GATA2
6 MAPK cascade GO:0000165 9.89 KRAS KIT JAK2 FLT3
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 KIT JAK2 FLT3
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 KIT JAK2 FLT3
9 regulation of hematopoietic stem cell differentiation GO:1902036 9.7 RUNX1 GATA2 CBFB
10 interleukin-6-mediated signaling pathway GO:0070102 9.64 JAK2 CEBPA
11 regulation of keratinocyte differentiation GO:0045616 9.63 RUNX1 CBFB
12 regulation of regulatory T cell differentiation GO:0045589 9.63 RUNX1 CBFB
13 positive regulation of MAP kinase activity GO:0043406 9.63 KRAS KIT FLT3
14 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.62 RUNX1 CBFB
15 hematopoietic stem cell proliferation GO:0071425 9.61 RUNX1 ETV6
16 definitive hemopoiesis GO:0060216 9.61 GATA2 CBFB
17 regulation of bicellular tight junction assembly GO:2000810 9.6 RUNX1 CBFB
18 regulation of myeloid cell differentiation GO:0045637 9.58 RUNX1 CBFB
19 regulation of B cell receptor signaling pathway GO:0050855 9.56 RUNX1 CBFB
20 cytokine-mediated signaling pathway GO:0019221 9.55 KRAS KIT JAK2 FLT3 CEBPA
21 regulation of cytokine-mediated signaling pathway GO:0001959 9.51 RUNX1 CBFB
22 ribosomal small subunit export from nucleus GO:0000056 9.49 NUP214 NPM1
23 ribosomal large subunit export from nucleus GO:0000055 9.48 NUP214 NPM1
24 myeloid progenitor cell differentiation GO:0002318 9.43 KIT FLT3
25 cell maturation GO:0048469 9.43 GATA2 CEBPA CBFB
26 positive regulation of CD8-positive, alpha-beta T cell differentiation GO:0043378 9.37 RUNX1 CBFB
27 negative regulation of CD4-positive, alpha-beta T cell differentiation GO:0043371 9.32 RUNX1 CBFB
28 myeloid cell differentiation GO:0030099 9.13 RUNX1 CEBPA CBFB
29 hemopoiesis GO:0030097 9.02 RUNX1 PICALM KIT GATA2 FLT3

Molecular functions related to Etv6 Thrombocytopenia and Predisposition to Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 TERT SH3GL1 RUNX1 PICALM NUP214 NPM1
2 DNA binding GO:0003677 9.86 TERT RUNX1 MLLT10 GATA2 ETV6 DNMT3A
3 protein homodimerization activity GO:0042803 9.72 TERT RUNX1 NPM1 KIT CEBPA
4 chromatin binding GO:0003682 9.55 NPM1 MLLT10 GATA2 DNMT3A CEBPA
5 protein tyrosine kinase activity GO:0004713 9.54 KIT JAK2 FLT3
6 transcription factor binding GO:0008134 9.02 RUNX1 NPM1 GATA2 DNMT3A CEBPA

Sources for Etv6 Thrombocytopenia and Predisposition to Leukemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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