THC4
MCID: THR048
MIFTS: 30

Thrombocytopenia 4 (THC4)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia 4

MalaCards integrated aliases for Thrombocytopenia 4:

Name: Thrombocytopenia 4 57 73 28 12 5 71
Thc4 57 73
Thrombocytopenia, Autosomal Dominant, 4 57
Thrombocytopenia Autosomal Dominant 4 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
two unrelated families have been reported (last curated february 2015)


Classifications:



External Ids:

OMIM® 57 612004
OMIM Phenotypic Series 57 PS313900
MeSH 43 D013921
MedGen 40 C2677608
SNOMED-CT via HPO 69 302215000 415116008
UMLS 71 C2677608

Summaries for Thrombocytopenia 4

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.

MalaCards based summary: Thrombocytopenia 4, also known as thc4, is related to thrombocytopenia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Thrombocytopenia 4 is CYCS (Cytochrome C, Somatic). Affiliated tissues include bone marrow, bone and lung, and related phenotype is thrombocytopenia.

More information from OMIM: 612004 PS313900

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 30 Very rare (1%) HP:0001873

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
thrombocytopenia, mild
normal platelet size and morphology
no increased bleeding tendency

Clinical features from OMIM®:

612004 (Updated 08-Dec-2022)

Drugs & Therapeutics for Thrombocytopenia 4

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

# Genetic test Affiliating Genes
1 Thrombocytopenia 4 28 CYCS

Anatomical Context for Thrombocytopenia 4

Organs/tissues related to Thrombocytopenia 4:

MalaCards : Bone Marrow, Bone, Lung, Breast, Prostate, Cervix, Spinal Cord
ODiseA: Blood And Bone Marrow

Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 62 57 5
24326104 2014
2
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. 57 5
30051457 2018
3
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 57 5
18345000 2008
4
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
5
Congenital thrombocytopenia and cytochrome C mutation: a matter of birth and death. 5
22102269 2011
6
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
7
Effectiveness of brentuximab vedotin monotherapy in relapsed or refractory Hodgkin lymphoma: a systematic review and meta-analysis. 62
34323643 2021
8
Low-affinity immunoglobulin gamma Fc region receptor III-B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders. 62
34544201 2021
9
Influence of cysteine-directed mutations at the Ω-loops on peroxidase activity of human cytochrome c. 62
34224685 2021
10
Benefits of immunoglobulin substitution in primary and secondary immunodeficiencies: Interim analysis of a prospective, long-term non-interventional study. 62
33860753 2021
11
The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies. 62
33544940 2021
12
Post-Neoadjuvant Gemcitabine and Cisplatin with Regional Hyperthermia for Patients with Triple-Negative Breast Cancer and Non-pCR after Neoadjuvant Chemotherapy: A Single-Institute Experience. 62
34012372 2021
13
Real-world adverse events associated with CAR T-cell therapy among adults age ≥ 65 years. 62
32798213 2021
14
A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family. 62
35126455 2021
15
FOLFIRINOX for Recurrent Pancreatic Cancer After Pancreatic Resection: A Secondary Analysis of the Nationwide Multicenter Observational Study Conducted by the Japan Adjuvant Study Group of Pancreatic Cancer 06. 62
33122527 2020
16
A Phase Ib/IIa Study of the Pan-BET Inhibitor ZEN-3694 in Combination with Enzalutamide in Patients with Metastatic Castration-resistant Prostate Cancer. 62
32694156 2020
17
Adjuvant chemotherapy in average-risk adult medulloblastoma patients improves survival: a long term study. 62
32787805 2020
18
A new piroplasmid species infecting dogs: morphological and molecular characterization and pathogeny of Babesia negevi n. sp. 62
32312309 2020
19
Phase II study of bevacizumab, cisplatin, and pemetrexed in advanced non-squamous non-small cell lung cancer (NS-NSCLC) with EGFR wild-type. 62
31881129 2019
20
Naturally Occurring A51V Variant of Human Cytochrome c Destabilizes the Native State and Enhances Peroxidase Activity. 62
31557440 2019
21
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. 62
31420046 2019
22
Treatment Outcome, Toxicity, and Predictive Factors for Radioligand Therapy with 177Lu-PSMA-I&T in Metastatic Castration-resistant Prostate Cancer. 62
30473431 2019
23
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. 62
30703190 2019
24
Phase II study of carboplatin, pemetrexed, and bevacizumab in advanced nonsquamous non-small-cell lung cancer. 62
29905018 2018
25
Combined Fluoroscopy and Ultrasound-Guided Transjugular Kidney Biopsy in Cirrhotic Patients. 62
29576494 2018
26
CHOP versus GEM-P in previously untreated patients with peripheral T-cell lymphoma (CHEMO-T): a phase 2, multicentre, randomised, open-label trial. 62
29703335 2018
27
Efficacy of daclatasvir-based quadruple therapy in nonresponder patients infected by hepatitis C virus genotype 4: the ANRS HC32 QUATTRO study. 62
29271782 2018
28
A phase 1 clinical trial evaluating marizomib, pomalidomide and low-dose dexamethasone in relapsed and refractory multiple myeloma (NPI-0052-107): final study results. 62
29076150 2018
29
Randomized phase II trial comparing axitinib with the combination of axitinib and lomustine in patients with recurrent glioblastoma. 62
28988341 2018
30
Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. 62
29922039 2018
31
Thymus transplantation for complete DiGeorge syndrome: European experience. 62
28400115 2017
32
A Retrospective Analysis of the First 41 mCRPC Patients with Bone Pain Treated with Radium-223 at the National Institute of Oncology in Hungary. 62
28074331 2017
33
A 15-year single centre retrospective study of antiphospholipid syndrome patients from Northern Malaysia. 62
28866693 2017
34
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. 62
28341958 2017
35
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. 62
27861742 2017
36
Polyclonal and monoclonal antibodies for induction therapy in kidney transplant recipients. 62
28073178 2017
37
Outcomes of first line chemotherapy in patients with chronic lymphocytic leukemia. 62
27882024 2016
38
Update: Ongoing Zika Virus Transmission - Puerto Rico, November 1, 2015-July 7, 2016. 62
27490087 2016
39
Increased dynamics in the 40-57 Ω-loop of the G41S variant of human cytochrome c promote its pro-apoptotic conformation. 62
27461282 2016
40
Daclatasvir and asunaprevir plus peginterferon alfa and ribavirin in HCV genotype 1 or 4 non-responders. 62
25703086 2015
41
Phase I/II study of temsirolimus for patients with unresectable Hepatocellular Carcinoma (HCC)- a correlative study to explore potential biomarkers for response. 62
25962426 2015
42
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. 62
24928772 2015
43
Non-transient "self-sustaining" heparin-induced thrombocytopenia: 4-year persistence of a platelet-activating PF4/heparin-antibody status without heparin exposure. 62
24246163 2014
44
Evaluation of the safety of imatinib mesylate in 200 iraqi patients with chronic myeloid leukemia in the chronic phase: single-center study. 62
24385829 2013
45
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. 62
23554030 2013
46
A multi-institutional, phase II open-label study of ganitumab (AMG 479) in advanced carcinoid and pancreatic neuroendocrine tumors. 62
23572164 2013
47
Gemcitabine plus capecitabine in unselected patients with advanced pancreatic cancer. 62
23462324 2013
48
Evaluation of vinorelbine-based chemotherapy as the second or further-line treatment in patients with metastatic breast cancer. 62
23788967 2013
49
[Inherited paternal antigens induce pregnancy thrombocytopenia]. 62
23257447 2012
50
Chemosensitized radiosurgery for recurrent brain metastases. 62
22910852 2012

Variations for Thrombocytopenia 4

ClinVar genetic disease variations for Thrombocytopenia 4:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYCS NM_018947.6(CYCS):c.145T>C (p.Tyr49His) SNV Pathogenic
180656 rs886037737 GRCh37: 7:25163594-25163594
GRCh38: 7:25123975-25123975
2 CYCS NM_018947.6(CYCS):c.301_303del (p.Lys101del) DEL Pathogenic
599385 rs1562515878 GRCh37: 7:25163335-25163337
GRCh38: 7:25123716-25123718
3 CYCS NM_018947.6(CYCS):c.124G>A (p.Gly42Ser) SNV Likely Pathogenic
16917 rs121918552 GRCh37: 7:25163615-25163615
GRCh38: 7:25123996-25123996
4 CYCS NM_018947.6(CYCS):c.290C>A (p.Ala97Asp) SNV Likely Pathogenic
1703823 GRCh37: 7:25163348-25163348
GRCh38: 7:25123729-25123729
5 CYCS NM_018947.6(CYCS):c.308C>T (p.Thr103Ile) SNV Likely Pathogenic
627298 rs1583394618 GRCh37: 7:25163330-25163330
GRCh38: 7:25123711-25123711
6 CYCS NM_018947.6(CYCS):c.154G>A (p.Ala52Thr) SNV Uncertain Significance
810076 rs573366932 GRCh37: 7:25163585-25163585
GRCh38: 7:25123966-25123966
7 CYCS NM_018947.6(CYCS):c.292T>C (p.Tyr98His) SNV Uncertain Significance
1708125 GRCh37: 7:25163346-25163346
GRCh38: 7:25123727-25123727
8 CYCS NM_018947.6(CYCS):c.94A>C (p.Asn32His) SNV Uncertain Significance
1684430 GRCh37: 7:25163645-25163645
GRCh38: 7:25124026-25124026
9 CYCS NM_018947.6(CYCS):c.62T>G (p.Val21Gly) SNV Uncertain Significance
1684432 GRCh37: 7:25163677-25163677
GRCh38: 7:25124058-25124058
10 CYCS NM_018947.6(CYCS):c.59C>T (p.Thr20Ile) SNV Uncertain Significance
1684433 GRCh37: 7:25163680-25163680
GRCh38: 7:25124061-25124061
11 CYCS NM_018947.6(CYCS):c.170-3T>C SNV Uncertain Significance
1032049 rs772641170 GRCh37: 7:25163471-25163471
GRCh38: 7:25123852-25123852
12 CYCS NM_018947.6(CYCS):c.79C>T (p.His27Tyr) SNV Uncertain Significance
1210164 GRCh37: 7:25163660-25163660
GRCh38: 7:25124041-25124041
13 CYCS NM_018947.6(CYCS):c.97C>G (p.Leu33Val) SNV Uncertain Significance
1676752 GRCh37: 7:25163642-25163642
GRCh38: 7:25124023-25124023
14 CYCS NM_018947.6(CYCS):c.-6T>G SNV Benign
261063 rs11267038 GRCh37: 7:25163744-25163744
GRCh38: 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

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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