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THC5
MCID: THR102
MIFTS: 29

Thrombocytopenia 5 (THC5)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Thrombocytopenia 5

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MalaCards integrated aliases for Thrombocytopenia 5:

Name: Thrombocytopenia 5 57 72 29 6 70
Thrombocytopenia 5 with Increased Susceptibility to Malignancy 57 72
Thrombocytopenia, Autosomal Dominant, 5 57 72
Thc5 57 72
Thrombocytopenia 5 with Increased Malignancy 57
Thrombocytopenia, Type 5 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of thrombocytopenia in early childhood
onset of malignancy can occur throughout life


HPO:

31
thrombocytopenia 5:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Immune diseases Blood diseases Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 616216
OMIM Phenotypic Series 57 PS313900
MeSH 44 D013921
UMLS 70 C4015537
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Summaries for Thrombocytopenia 5

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OMIM® : 57 Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (616216) (Updated 20-May-2021)

MalaCards based summary : Thrombocytopenia 5, also known as thrombocytopenia 5 with increased susceptibility to malignancy, is related to etv6 thrombocytopenia and predisposition to leukemia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 5 is ETV6 (ETS Variant Transcription Factor 6). Affiliated tissues include bone marrow, breast and bone, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot : 72 Thrombocytopenia 5: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.

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Related Diseases for Thrombocytopenia 5

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Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Thrombocytopenia 7 Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Thrombocytopenia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 etv6 thrombocytopenia and predisposition to leukemia 11.0

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Symptoms & Phenotypes for Thrombocytopenia 5

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Human phenotypes related to Thrombocytopenia 5:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anemia 31 occasional (7.5%) HP:0001903
2 neutropenia 31 occasional (7.5%) HP:0001875
3 thrombocytopenia 31 HP:0001873
4 epistaxis 31 HP:0000421
5 petechiae 31 HP:0000967
6 bruising susceptibility 31 HP:0000978

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
thrombocytopenia
anemia (in some patients)
neutropenia (in some patients)

Skin Nails Hair Skin:
petechiae
easy bruising

Head And Neck Nose:
epistaxis

Neoplasia:
increased susceptibility to hematologic malignancies

Clinical features from OMIM®:

616216 (Updated 20-May-2021)

UMLS symptoms related to Thrombocytopenia 5:


petechiae of skin
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Drugs & Therapeutics for Thrombocytopenia 5

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Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 5

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Genetic Tests for Thrombocytopenia 5

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Genetic tests related to Thrombocytopenia 5:

# Genetic test Affiliating Genes
1 Thrombocytopenia 5 29 ETV6
Sources

Anatomical Context for Thrombocytopenia 5

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MalaCards organs/tissues related to Thrombocytopenia 5:

40
Bone Marrow, Breast, Bone, Liver, Myeloid
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Publications for Thrombocytopenia 5

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Articles related to Thrombocytopenia 5:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 6 57
25807284 2015
2
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 57 6
25581430 2015
3
A multicenter phase II study of TAS-114 in combination with S-1 in patients with pretreated advanced gastric cancer (EPOC1604). 61
32700159 2021
4
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial. 61
32492087 2020
5
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
6
Immature platelet fraction: A useful marker for identifying the cause of thrombocytopenia and predicting platelet recovery. 61
32049816 2020
7
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
8
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support: Review of the literature and alternative anticoagulants. 61
31313454 2019
9
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. 61
31519648 2019
10
Hemophagocytosis and Histoplasma-like fungal infection in 32 cats. 61
31175684 2019
11
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
12
Phrenic long-term depression evoked by intermittent hypercapnia is modulated by serotonergic and adrenergic receptors in raphe nuclei. 61
29617215 2018
13
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support in pediatric patients: review of the literature and alternative anticoagulants. 61
29788841 2018
14
Germline ETV6 mutations and predisposition to hematological malignancies. 61
28555414 2017
15
Gemcitabine, dexamethasone, and cisplatin (GDP) as salvage chemotherapy for patients with relapsed or refractory peripheral T cell lymphoma-not otherwise specified. 61
27858107 2017
16
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
17
Thrombotic thrombocytopenic purpura in the course of systemic lupus erythematosus in a 15-year-old girl. 61
29472821 2017
18
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
19
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
20
A retrospective study of chemotherapy with cisplatin plus gemcitabine after the failure of gemcitabine monotherapy for biliary tract cancer. 61
23619988 2013
21
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
22
Referrals for suspected hematologic malignancy: a survey of primary care physicians. 61
22473854 2012
23
[Analysis on the diagnosis and treatment of a cluster of cases infected by new bunyavirus]. 61
22490190 2012
24
[Laboratory investigations in acute olanzapine poisonings]. 61
22010428 2011
25
Phase II study of sunitinib malate in head and neck squamous cell carcinoma. 61
19649772 2010
26
An outbreak of dengue fever in St. Croix (US Virgin Islands), 2005. 61
21060852 2010
27
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. 61
20652968 2010
28
Emergency department awareness of heparin-induced thrombocytopenia: how frequently is risk assessment documented in patients with thrombosis? 61
20522721 2010
29
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. 61
20435624 2010
30
Safety and efficacy of single-day GemOx regimen in patients with pancreatobiliary cancer: a single institution experience. 61
20095915 2010
31
A phase II study of gemcitabine and oxaliplatin (Oxigem) in unresectable gall bladder cancer. 61
19575200 2010
32
Triweekly oxaliplatin plus oral capecitabine as first-line chemotherapy in elderly patients with advanced gastric cancer. 61
19581793 2009
33
Phase II trial of S-1 in combination with gemcitabine for chemo-naïve patients with locally advanced or metastatic pancreatic cancer. 61
19151975 2009
34
Thrombocytopenia, an important interfering factor of antiviral therapy and hepatocellular carcinoma treatment for chronic liver diseases. 61
20103996 2009
35
Phase IIb multicenter trial of vorinostat in patients with persistent, progressive, or treatment refractory cutaneous T-cell lymphoma. 61
17577020 2007
36
[Treatment with natural interferon (alfaferone) in clinical practice--our experience]. 61
17702434 2007
37
Phase I clinical trial of bortezomib in combination with gemcitabine in patients with advanced solid tumors. 61
17036355 2006
38
Human granulocytic anaplasmosis in Austria: epidemiological, clinical, and laboratory findings in five consecutive patients from Tyrol, Austria. 61
16531117 2006
39
Phase I trial of UCN-01 in combination with topotecan in patients with advanced solid cancers: a Princess Margaret Hospital Phase II Consortium study. 61
16284058 2006
40
Phase II study of temsirolimus (CCI-779), a novel inhibitor of mTOR, in heavily pretreated patients with locally advanced or metastatic breast cancer. 61
15955899 2005
41
Gemcitabine/capecitabine in patients with metastatic breast cancer pretreated with anthracyclines and taxanes. 61
16001994 2005
42
Diagnosis and management of heparin-induced thrombocytopenia. 61
15853606 2005
43
Disseminated intravascular coagulation in cattle with abomasal displacement. 61
15727292 2005
44
Post-operative thrombotic thrombocytopenic purpura: a review. 61
15055865 2004
45
A phase II study of irinotecan alternated with a weekly schedule of oxaliplatin, high-dose leucovorin and 48-hour infusion 5-fluorouracil in patients with advanced colorectal cancer. 61
15331924 2004
46
Activity of weekly irinotecan (CPT-11) in patients with advanced non-small cell lung cancer pretreated with platinum and taxanes. 61
14586214 2003
47
Pharmacotherapy of heparin- induced thrombocytopenia. 61
12783589 2003
48
Phase II study of fludarabine combined with interferon-alpha-2a followed by maintenance therapy with interferon-alpha-2a in patients with low-grade non-hodgkin's lymphoma. 61
12151972 2002
49
Efficacy of sirolimus (rapamycin) administered concomitantly with a subtherapeutic dose of cyclosporin in the treatment of severe psoriasis: a randomized controlled trial. 61
11531834 2001
50
Use of the quinolones in treatment of severe bacterial infections in premature infants. 61
11293256 2000
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Variations for Thrombocytopenia 5

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ClinVar genetic disease variations for Thrombocytopenia 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ETV6 NM_001987.4(ETV6):c.1252A>G (p.Arg418Gly) SNV Pathogenic 190309 rs786205226 GRCh37: 12:12038959-12038959
GRCh38: 12:11886025-11886025
2 ETV6 NM_001987.4(ETV6):c.614del (p.Leu205fs) Deletion Pathogenic 435100 rs1555144911 GRCh37: 12:12022508-12022508
GRCh38: 12:11869574-11869574
3 ETV6 NM_001987.4(ETV6):c.1195C>T (p.Arg399Cys) SNV Pathogenic 162220 rs724159945 GRCh37: 12:12038902-12038902
GRCh38: 12:11885968-11885968
4 ETV6 NM_001987.4(ETV6):c.1106G>A (p.Arg369Gln) SNV Pathogenic 162221 rs724159946 GRCh37: 12:12037475-12037475
GRCh38: 12:11884541-11884541
5 ETV6 NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) SNV Pathogenic 162222 rs724159947 GRCh37: 12:12022535-12022535
GRCh38: 12:11869601-11869601
6 ETV6 NM_001987.5(ETV6):c.632G>A (p.Arg211His) SNV Uncertain significance 992913 GRCh37: 12:12022526-12022526
GRCh38: 12:11869592-11869592
7 ETV6 NM_001987.4(ETV6):c.1152+5A>G SNV Uncertain significance 435099 rs201196326 GRCh37: 12:12037526-12037526
GRCh38: 12:11884592-11884592
8 ETV6 NM_001987.5(ETV6):c.219del (p.Glu74fs) Deletion Uncertain significance 1030501 GRCh37: 12:11992129-11992129
GRCh38: 12:11839195-11839195
9 ETV6 NM_001987.5(ETV6):c.406C>G (p.Pro136Ala) SNV Uncertain significance 1030502 GRCh37: 12:12006438-12006438
GRCh38: 12:11853504-11853504
10 ETV6 NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) SNV Uncertain significance 1033878 GRCh37: 12:12006412-12006412
GRCh38: 12:11853478-11853478

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 5:

72
# Symbol AA change Variation ID SNP ID
1 ETV6 p.Pro214Leu VAR_073322 rs724159947
2 ETV6 p.Arg369Gln VAR_073323 rs724159946
3 ETV6 p.Arg399Cys VAR_073324 rs724159945

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Expression for Thrombocytopenia 5

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Search GEO for disease gene expression data for Thrombocytopenia 5.
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Pathways for Thrombocytopenia 5

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GO Terms for Thrombocytopenia 5

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Sources for Thrombocytopenia 5

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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