THC4
MCID: THR048
MIFTS: 31

Thrombocytopenia 4 (THC4)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia 4

MalaCards integrated aliases for Thrombocytopenia 4:

Name: Thrombocytopenia 4 56 73 29 13 6 71
Thc4 56 73
Thrombocytopenia, Autosomal Dominant, 4 56
Thrombocytopenia Autosomal Dominant 4 73
Thrombocytopenia, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated families have been reported (last curated february 2015)


HPO:

31
thrombocytopenia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 612004
MeSH 43 D013921
MedGen 41 C2677608
SNOMED-CT via HPO 68 263681008 302215000 415116008
UMLS 71 C2677608

Summaries for Thrombocytopenia 4

UniProtKB/Swiss-Prot : 73 Thrombocytopenia 4: 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.

MalaCards based summary : Thrombocytopenia 4, also known as thc4, is related to hereditary thrombocytopenia with normal platelets and thrombocytopenia 5. An important gene associated with Thrombocytopenia 4 is CYCS (Cytochrome C, Somatic). The drugs Gemcitabine and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and bone, and related phenotype is thrombocytopenia.

More information from OMIM: 612004

Related Diseases for Thrombocytopenia 4

Graphical network of the top 20 diseases related to Thrombocytopenia 4:



Diseases related to Thrombocytopenia 4

Symptoms & Phenotypes for Thrombocytopenia 4

Human phenotypes related to Thrombocytopenia 4:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873

Symptoms via clinical synopsis from OMIM:

56
Hematology:
thrombocytopenia, mild
normal platelet size and morphology
no increased bleeding tendency

Clinical features from OMIM:

612004

Drugs & Therapeutics for Thrombocytopenia 4

Drugs for Thrombocytopenia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 1 95058-81-4 60750
2
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
3
Valganciclovir Approved, Investigational Phase 1 175865-60-8 64147
4
Ganciclovir Approved, Investigational Phase 1 82410-32-0 3454
5 Immunologic Factors Phase 1
6 Anti-Infective Agents Phase 1
7 Antiviral Agents Phase 1
8 Psychotropic Drugs Phase 1
9 Immunosuppressive Agents Phase 1
10 Anticonvulsants Phase 1
11 Ganciclovir triphosphate Phase 1
12 Neurotransmitter Agents Phase 1
13 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Study of Cytolytic Viral Activation Therapy (CVAT) for Recurrent/Metastatic Nasopharyngeal Carcinoma Unknown status NCT02761291 Phase 1 Gemcitabine;Valproic acid;Valganciclovir
2 Impact of Thrombocytopenia and Platelet Transfusions on Neonatal Bleeding and Inflammation Recruiting NCT03848923

Search NIH Clinical Center for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

# Genetic test Affiliating Genes
1 Thrombocytopenia 4 29 CYCS

Anatomical Context for Thrombocytopenia 4

MalaCards organs/tissues related to Thrombocytopenia 4:

40
Lung, Breast, Bone, Bone Marrow, Prostate, Brain, Kidney

Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 6 56 61
24326104 2014
2
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. 56 6
30051457 2018
3
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 56 6
18345000 2008
4
A new piroplasmid species infecting dogs: morphological and molecular characterization and pathogeny of Babesia negevi n. sp. 61
32312309 2020
5
Phase II study of bevacizumab, cisplatin, and pemetrexed in advanced non-squamous non-small cell lung cancer (NS-NSCLC) with EGFR wild-type. 61
31881129 2019
6
Naturally Occurring A51V Variant of Human Cytochrome c Destabilizes the Native State and Enhances Peroxidase Activity. 61
31557440 2019
7
Efficacy and safety of preoperative 5-fluorouracil, cisplatin, and mitomycin C in combination with radiotherapy in patients with resectable and borderline resectable pancreatic cancer: a long-term follow-up study. 61
31420046 2019
8
Treatment Outcome, Toxicity, and Predictive Factors for Radioligand Therapy with 177Lu-PSMA-I&T in Metastatic Castration-resistant Prostate Cancer. 61
30473431 2019
9
Effect of Adding Docetaxel to Androgen-Deprivation Therapy in Patients With High-Risk Prostate Cancer With Rising Prostate-Specific Antigen Levels After Primary Local Therapy: A Randomized Clinical Trial. 61
30703190 2019
10
Phase II study of carboplatin, pemetrexed, and bevacizumab in advanced nonsquamous non-small-cell lung cancer. 61
29905018 2018
11
Combined Fluoroscopy and Ultrasound-Guided Transjugular Kidney Biopsy in Cirrhotic Patients. 61
29576494 2018
12
CHOP versus GEM-P in previously untreated patients with peripheral T-cell lymphoma (CHEMO-T): a phase 2, multicentre, randomised, open-label trial. 61
29703335 2018
13
Efficacy of daclatasvir-based quadruple therapy in nonresponder patients infected by hepatitis C virus genotype 4: the ANRS HC32 QUATTRO study. 61
29271782 2018
14
A phase 1 clinical trial evaluating marizomib, pomalidomide and low-dose dexamethasone in relapsed and refractory multiple myeloma (NPI-0052-107): final study results. 61
29076150 2018
15
Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. 61
29922039 2018
16
Randomized phase II trial comparing axitinib with the combination of axitinib and lomustine in patients with recurrent glioblastoma. 61
28988341 2018
17
Thymus transplantation for complete DiGeorge syndrome: European experience. 61
28400115 2017
18
A Retrospective Analysis of the First 41 mCRPC Patients with Bone Pain Treated with Radium-223 at the National Institute of Oncology in Hungary. 61
28074331 2017
19
A 15-year single centre retrospective study of antiphospholipid syndrome patients from Northern Malaysia. 61
28866693 2017
20
Randomized phase II study comparing weekly docetaxel-cisplatin vs. gemcitabine-cisplatin in elderly or poor performance status patients with advanced non-small cell lung cancer. 61
28341958 2017
21
Polyclonal and monoclonal antibodies for induction therapy in kidney transplant recipients. 61
28073178 2017
22
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. 61
27861742 2017
23
Outcomes of first line chemotherapy in patients with chronic lymphocytic leukemia. 61
27882024 2016
24
Update: Ongoing Zika Virus Transmission - Puerto Rico, November 1, 2015-July 7, 2016. 61
27490087 2016
25
Increased dynamics in the 40-57 Ω-loop of the G41S variant of human cytochrome c promote its pro-apoptotic conformation. 61
27461282 2016
26
Daclatasvir and asunaprevir plus peginterferon alfa and ribavirin in HCV genotype 1 or 4 non-responders. 61
25703086 2015
27
Phase I/II study of temsirolimus for patients with unresectable Hepatocellular Carcinoma (HCC)- a correlative study to explore potential biomarkers for response. 61
25962426 2015
28
Carlumab, an anti-C-C chemokine ligand 2 monoclonal antibody, in combination with four chemotherapy regimens for the treatment of patients with solid tumors: an open-label, multicenter phase 1b study. 61
24928772 2015
29
Non-transient "self-sustaining" heparin-induced thrombocytopenia: 4-year persistence of a platelet-activating PF4/heparin-antibody status without heparin exposure. 61
24246163 2014
30
Evaluation of the safety of imatinib mesylate in 200 iraqi patients with chronic myeloid leukemia in the chronic phase: single-center study. 61
24385829 2013
31
A pediatric phase 1 trial of vorinostat and temozolomide in relapsed or refractory primary brain or spinal cord tumors: a Children's Oncology Group phase 1 consortium study. 61
23554030 2013
32
A multi-institutional, phase II open-label study of ganitumab (AMG 479) in advanced carcinoid and pancreatic neuroendocrine tumors. 61
23572164 2013
33
Gemcitabine plus capecitabine in unselected patients with advanced pancreatic cancer. 61
23462324 2013
34
Evaluation of vinorelbine-based chemotherapy as the second or further-line treatment in patients with metastatic breast cancer. 61
23788967 2013
35
[Inherited paternal antigens induce pregnancy thrombocytopenia]. 61
23257447 2012
36
Chemosensitized radiosurgery for recurrent brain metastases. 61
22910852 2012
37
Phase I and pharmacokinetic study of the oral histone deacetylase inhibitor vorinostat in Japanese patients with relapsed or refractory cutaneous T-cell lymphoma. 61
22506596 2012
38
Severe Plasmodium vivax malaria among sudanese children at New Halfa Hospital, Eastern Sudan. 61
22846165 2012
39
Irinotecan plus mitomycin C as second-line chemotherapy for advanced gastric cancer resistant to fluoropyrimidine and Cisplatin: a retrospective study. 61
22474446 2012
40
Mitomycin C in combination with vinorelbine in anthracycline- and/or taxane-pretreated patients with metastatic breast cancer. 61
23007147 2012
41
Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia. 61
22679192 2011
42
Platinum-based doublet chemotherapy in pre-treated malignant pleural mesothelioma (MPM) patients: a mono-institutional experience. 61
21296448 2011
43
Concomitant chemoradiotherapy using pemetrexed and carboplatin for unresectable stage III non-small cell lung cancer (NSCLC): preliminary results of a phase II study. 61
21056507 2011
44
A multi-institution phase II study of gemcitabine/S-1 combination chemotherapy for patients with advanced biliary tract cancer. 61
20811895 2011
45
Initial cytoreductive treatment with thalidomide plus bolus vincristine/doxorubicin and reduced dexamethasone followed by autologous stem cell transplantation for multiple myeloma. 61
19823768 2011
46
Addition of bevacizumab to XELOX induction therapy plus concomitant capecitabine-based chemoradiotherapy in magnetic resonance imaging-defined poor-prognosis locally advanced rectal cancer: the AVACROSS study. 61
21467148 2011
47
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 61
21211618 2011
48
Feasibility, toxicity, and efficacy of short induction chemotherapy of docetaxel plus cisplatin or carboplatin (TP) followed by concurrent chemoradio-therapy for organ preservation in advanced cancer of the hypopharynx, larynx, and base of tongue. Early results. 61
21234526 2011
49
Sunitinib malate for gastrointestinal stromal tumour in imatinib mesylate-resistant patients: recommendations and evidence. 61
20697509 2010
50
Phase I pharmacokinetic and pharmacodynamic study of 17-dimethylaminoethylamino-17-demethoxygeldanamycin, an inhibitor of heat-shock protein 90, in patients with advanced solid tumors. 61
20177028 2010

Variations for Thrombocytopenia 4

ClinVar genetic disease variations for Thrombocytopenia 4:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYCS NM_018947.5(CYCS):c.301_303del (p.Lys101del)deletion Pathogenic 599385 rs1562515878 7:25163335-25163337 7:25123716-25123718
2 CYCS NM_018947.5(CYCS):c.145T>C (p.Tyr49His)SNV Pathogenic 180656 rs886037737 7:25163594-25163594 7:25123975-25123975
3 CYCS NM_018947.5(CYCS):c.124G>A (p.Gly42Ser)SNV Likely pathogenic 16917 rs121918552 7:25163615-25163615 7:25123996-25123996
4 CYCS NM_018947.5(CYCS):c.-6T>GSNV Benign/Likely benign 261063 rs11267038 7:25163744-25163744 7:25124125-25124125

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 4:

73
# Symbol AA change Variation ID SNP ID
1 CYCS p.Gly42Ser VAR_044450 rs121918552

Expression for Thrombocytopenia 4

Search GEO for disease gene expression data for Thrombocytopenia 4.

Pathways for Thrombocytopenia 4

GO Terms for Thrombocytopenia 4

Sources for Thrombocytopenia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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