THC5
MCID: THR102
MIFTS: 30

Thrombocytopenia 5 (THC5)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia 5

MalaCards integrated aliases for Thrombocytopenia 5:

Name: Thrombocytopenia 5 57 73 28 5 71
Thrombocytopenia 5 with Increased Susceptibility to Malignancy 57 73
Thrombocytopenia, Autosomal Dominant, 5 57 73
Thc5 57 73
Thrombocytopenia 5 with Increased Malignancy 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of thrombocytopenia in early childhood
onset of malignancy can occur throughout life


Classifications:



External Ids:

OMIM® 57 616216
OMIM Phenotypic Series 57 PS313900
MeSH 43 D013921
UMLS 71 C4015537

Summaries for Thrombocytopenia 5

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 08-Dec-2022)

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, bone and skin, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot: 73 A form of thrombocytopenia, a hematologic disorder 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.

Related Diseases for Thrombocytopenia 5

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 11.1

Symptoms & Phenotypes for Thrombocytopenia 5

Human phenotypes related to Thrombocytopenia 5:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 30 Occasional (7.5%) HP:0001903
2 neutropenia 30 Occasional (7.5%) HP:0001875
3 thrombocytopenia 30 HP:0001873
4 epistaxis 30 HP:0000421
5 petechiae 30 HP:0000967
6 bruising susceptibility 30 HP:0000978

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Thrombocytopenia 5:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia 5

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 5

Genetic Tests for Thrombocytopenia 5

Genetic tests related to Thrombocytopenia 5:

# Genetic test Affiliating Genes
1 Thrombocytopenia 5 28 ETV6

Anatomical Context for Thrombocytopenia 5

Organs/tissues related to Thrombocytopenia 5:

MalaCards : Bone Marrow, Bone, Skin, Breast, Myeloid, Lung, Liver
ODiseA: Blood And Bone Marrow

Publications for Thrombocytopenia 5

Articles related to Thrombocytopenia 5:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 57 5
25807284 2015
2
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 57 5
25581430 2015
3
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
4
Trotabresib, an oral potent bromodomain and extraterminal inhibitor, in patients with high-grade gliomas: a phase I, "windowofopportunity" study. 62
36455228 2022
5
A phase 2, multicentre, open-label trial (ACE-LY-003) of acalabrutinib in patients with relapsed or refractory marginal zone lymphoma. 62
35861370 2022
6
Brainstem auditory pathway maturation in term neonates with congenital cytomegalovirus infection: a cohort study. 62
36207473 2022
7
Clinical characteristics and maternal perinatal outcome in women with a confirmed diagnosis of COVID-19 in a hospital in Peru. Retrospective cohort study 62
35503299 2022
8
Blockade of alpha2-adrenergic receptors in the caudal raphe region enhances the renal sympathetic nerve activity response to acute intermittent hypercapnia in rats. 62
35043650 2022
9
A phase 1 study of the safety, pharmacokinetics and pharmacodynamics of escalating doses followed by dose expansion of the selective inhibitor of nuclear export (SINE) selinexor in Asian patients with advanced or metastatic malignancies. 62
35432603 2022
10
Gemcitabine, carboplatin and veliparib in multiple relapsed/refractory germ cell tumours: The GCT-SK-004 phase II trial. 62
34052929 2021
11
A multicenter phase II study of TAS-114 in combination with S-1 in patients with pretreated advanced gastric cancer (EPOC1604). 62
32700159 2021
12
Sarcoidosis beyond pulmonary involvement: A case series of unusual presentations. 62
34471595 2021
13
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial. 62
32492087 2020
14
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. 62
32807241 2020
15
Immature platelet fraction: A useful marker for identifying the cause of thrombocytopenia and predicting platelet recovery. 62
32049816 2020
16
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial. 62
31474354 2019
17
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support: Review of the literature and alternative anticoagulants. 62
31313454 2019
18
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. 62
31519648 2019
19
Hemophagocytosis and Histoplasma-like fungal infection in 32 cats. 62
31175684 2019
20
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). 62
29921512 2018
21
Phrenic long-term depression evoked by intermittent hypercapnia is modulated by serotonergic and adrenergic receptors in raphe nuclei. 62
29617215 2018
22
Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support in pediatric patients: review of the literature and alternative anticoagulants. 62
29788841 2018
23
Germline ETV6 mutations and predisposition to hematological malignancies. 62
28555414 2017
24
Gemcitabine, dexamethasone, and cisplatin (GDP) as salvage chemotherapy for patients with relapsed or refractory peripheral T cell lymphoma-not otherwise specified. 62
27858107 2017
25
Safety, efficacy and pharmacokinetics of humanized anti-CD52 monoclonal antibody alemtuzumab in Japanese patients with relapsed or refractory B-cell chronic lymphocytic leukemia. 62
28122892 2017
26
Thrombotic thrombocytopenic purpura in the course of systemic lupus erythematosus in a 15-year-old girl. 62
29472821 2017
27
Ofatumumab in poor-prognosis chronic lymphocytic leukemia: a phase IV, non-interventional, observational study from the European Research Initiative on Chronic Lymphocytic Leukemia. 62
25596264 2015
28
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. 62
22868240 2013
29
A retrospective study of chemotherapy with cisplatin plus gemcitabine after the failure of gemcitabine monotherapy for biliary tract cancer. 62
23619988 2013
30
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. 62
23088650 2012
31
Referrals for suspected hematologic malignancy: a survey of primary care physicians. 62
22473854 2012
32
[Analysis on the diagnosis and treatment of a cluster of cases infected by new bunyavirus]. 62
22490190 2012
33
[Laboratory investigations in acute olanzapine poisonings]. 62
22010428 2011
34
An outbreak of dengue fever in St. Croix (US Virgin Islands), 2005. 62
21060852 2010
35
Phase II study of sunitinib malate in head and neck squamous cell carcinoma. 62
19649772 2010
36
Emergency department awareness of heparin-induced thrombocytopenia: how frequently is risk assessment documented in patients with thrombosis? 62
20522721 2010
37
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. 62
20652968 2010
38
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. 62
20435624 2010
39
Safety and efficacy of single-day GemOx regimen in patients with pancreatobiliary cancer: a single institution experience. 62
20095915 2010
40
A phase II study of gemcitabine and oxaliplatin (Oxigem) in unresectable gall bladder cancer. 62
19575200 2010
41
Triweekly oxaliplatin plus oral capecitabine as first-line chemotherapy in elderly patients with advanced gastric cancer. 62
19581793 2009
42
Phase II trial of S-1 in combination with gemcitabine for chemo-naïve patients with locally advanced or metastatic pancreatic cancer. 62
19151975 2009
43
Thrombocytopenia, an important interfering factor of antiviral therapy and hepatocellular carcinoma treatment for chronic liver diseases. 62
20103996 2009
44
Phase IIb multicenter trial of vorinostat in patients with persistent, progressive, or treatment refractory cutaneous T-cell lymphoma. 62
17577020 2007
45
[Treatment with natural interferon (alfaferone) in clinical practice--our experience]. 62
17702434 2007
46
Phase I clinical trial of bortezomib in combination with gemcitabine in patients with advanced solid tumors. 62
17036355 2006
47
Human granulocytic anaplasmosis in Austria: epidemiological, clinical, and laboratory findings in five consecutive patients from Tyrol, Austria. 62
16531117 2006
48
Phase I trial of UCN-01 in combination with topotecan in patients with advanced solid cancers: a Princess Margaret Hospital Phase II Consortium study. 62
16284058 2006
49
Phase II study of temsirolimus (CCI-779), a novel inhibitor of mTOR, in heavily pretreated patients with locally advanced or metastatic breast cancer. 62
15955899 2005
50
Gemcitabine/capecitabine in patients with metastatic breast cancer pretreated with anthracyclines and taxanes. 62
16001994 2005

Variations for Thrombocytopenia 5

ClinVar genetic disease variations for Thrombocytopenia 5:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ETV6 NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) SNV Pathogenic
190309 rs786205226 GRCh37: 12:12038959-12038959
GRCh38: 12:11886025-11886025
2 ETV6 DEL Pathogenic
1333000 GRCh37: 12:12022308-12048307
GRCh38:
3 ETV6 NM_001987.5(ETV6):c.614del (p.Leu205fs) DEL Pathogenic
435100 rs1555144911 GRCh37: 12:12022508-12022508
GRCh38: 12:11869574-11869574
4 ETV6 NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys) SNV Pathogenic
162220 rs724159945 GRCh37: 12:12038902-12038902
GRCh38: 12:11885968-11885968
5 ETV6 NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) SNV Pathogenic
162221 rs724159946 GRCh37: 12:12037475-12037475
GRCh38: 12:11884541-11884541
6 ETV6 NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) SNV Likely Pathogenic
162222 rs724159947 GRCh37: 12:12022535-12022535
GRCh38: 12:11869601-11869601
7 ETV6 NM_001987.5(ETV6):c.1196G>A (p.Arg399His) SNV Likely Pathogenic
1175817 GRCh37: 12:12038903-12038903
GRCh38: 12:11885969-11885969
8 ETV6 NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp) SNV Likely Pathogenic
626971 rs1591749480 GRCh37: 12:12037474-12037474
GRCh38: 12:11884540-11884540
9 ETV6 NM_001987.5(ETV6):c.968C>G (p.Ser323Cys) SNV Likely Pathogenic
1703825 GRCh37: 12:12022862-12022862
GRCh38: 12:11869928-11869928
10 ETV6 NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis) INDEL Uncertain Significance
1172743 GRCh37: 12:12037482-12037489
GRCh38: 12:11884548-11884555
11 ETV6 NM_001987.5(ETV6):c.1085A>G (p.Asp362Gly) SNV Uncertain Significance
1684380 GRCh37: 12:12037454-12037454
GRCh38: 12:11884520-11884520
12 ETV6 NM_001987.5(ETV6):c.116G>A (p.Arg39Gln) SNV Uncertain Significance
1698990 GRCh37: 12:11905466-11905466
GRCh38: 12:11752532-11752532
13 ETV6 NM_001987.5(ETV6):c.1152+6del DEL Uncertain Significance
1699041 GRCh37: 12:12037524-12037524
GRCh38: 12:11884590-11884590
14 ETV6 NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) SNV Uncertain Significance
1033878 rs140357643 GRCh37: 12:12006412-12006412
GRCh38: 12:11853478-11853478
15 ETV6 NM_001987.5(ETV6):c.1152+5A>G SNV Uncertain Significance
435099 rs201196326 GRCh37: 12:12037526-12037526
GRCh38: 12:11884592-11884592
16 ETV6 NM_001987.5(ETV6):c.1076G>T (p.Arg359Leu) SNV Uncertain Significance
1703824 GRCh37: 12:12037445-12037445
GRCh38: 12:11884511-11884511
17 ETV6 NM_001987.5(ETV6):c.1034T>G (p.Val345Gly) SNV Uncertain Significance
1677253 GRCh37: 12:12037403-12037403
GRCh38: 12:11884469-11884469
18 ETV6 NM_001987.5(ETV6):c.632G>A (p.Arg211His) SNV Uncertain Significance
992913 rs111871763 GRCh37: 12:12022526-12022526
GRCh38: 12:11869592-11869592
19 ETV6 NM_001987.5(ETV6):c.406C>G (p.Pro136Ala) SNV Uncertain Significance
1030502 rs1946587466 GRCh37: 12:12006438-12006438
GRCh38: 12:11853504-11853504
20 ETV6 NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) SNV Benign
451459 rs200351280 GRCh37: 12:12022499-12022499
GRCh38: 12:11869565-11869565

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

73
# 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

Expression for Thrombocytopenia 5

Search GEO for disease gene expression data for Thrombocytopenia 5.

Pathways for Thrombocytopenia 5

GO Terms for Thrombocytopenia 5

Sources for Thrombocytopenia 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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