Thrombocytopenia 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

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

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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

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Related Diseases for Thrombocytopenia 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	thrombocytopenia	10.0
2	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	9.7
3	thrombocytopenia 5	9.7
4	thrombocytopenia due to platelet alloimmunization	9.7
5	transient cerebral ischemia	9.7
6	purpura	9.7
7	etv6 thrombocytopenia and predisposition to leukemia	9.7
8	heparin-induced thrombocytopenia	9.7

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

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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)

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Drugs & Therapeutics for Thrombocytopenia 4

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 4

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Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

#	Genetic test	Affiliating Genes
1	Thrombocytopenia 4 ²⁸	CYCS

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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

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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	De Rocco D...Savoia A	24326104	2014
2	A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. ⁵⁷ ⁵	Uchiyama Y...Mizuguchi T	30051457	2018
3	A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. ⁵⁷ ⁵	Morison IM...Ledgerwood EC	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	Megy K...Freson K	34355501	2021
5	Congenital thrombocytopenia and cytochrome C mutation: a matter of birth and death. ⁵	Cramer Borde E...Morison IM	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	Madirazza K...Dogas Z	35043650	2022
7	Effectiveness of brentuximab vedotin monotherapy in relapsed or refractory Hodgkin lymphoma: a systematic review and meta-analysis. ⁶²	Plattel WJ...von Tresckow B	34323643	2021
8	Low-affinity immunoglobulin gamma Fc region receptor III-B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders. ⁶²	Minguela A...Campillo JA	34544201	2021
9	Influence of cysteine-directed mutations at the Ω-loops on peroxidase activity of human cytochrome c. ⁶²	Samsri S...Pornsuwan S	34224685	2021
10	Benefits of immunoglobulin substitution in primary and secondary immunodeficiencies: Interim analysis of a prospective, long-term non-interventional study. ⁶²	Bauhofer A...Klausmann M	33860753	2021
11	The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies. ⁶²	Shaw JL...Soff GA	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	Stoetzer O...Salat C	34012372	2021
13	Real-world adverse events associated with CAR T-cell therapy among adults age ≥ 65 years. ⁶²	Zettler ME...Gajra A	32798213	2021
14	A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family. ⁶²	Che F...Yang Y	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	Morinaga S...Fukutomi A	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	Aggarwal RR...Alumkal JJ	32694156	2020
17	Adjuvant chemotherapy in average-risk adult medulloblastoma patients improves survival: a long term study. ⁶²	Franceschi E...Brandes AA	32787805	2020
18	A new piroplasmid species infecting dogs: morphological and molecular characterization and pathogeny of Babesia negevi n. sp. ⁶²	Baneth G...Aroch I	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	Murakami S...Yamada K	31881129	2019
20	Naturally Occurring A51V Variant of Human Cytochrome c Destabilizes the Native State and Enhances Peroxidase Activity. ⁶²	Lei H...Bowler BE	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	Endo Y...Kitagawa Y	31420046	2019
22	Treatment Outcome, Toxicity, and Predictive Factors for Radioligand Therapy with 177Lu-PSMA-I&T in Metastatic Castration-resistant Prostate Cancer. ⁶²	Heck MM...Eiber M	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	Oudard S...Elaidi R	30703190	2019
24	Phase II study of carboplatin, pemetrexed, and bevacizumab in advanced nonsquamous non-small-cell lung cancer. ⁶²	Laslett NF...Guarino M	29905018	2018
25	Combined Fluoroscopy and Ultrasound-Guided Transjugular Kidney Biopsy in Cirrhotic Patients. ⁶²	Bashir S...Sarin SK	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	Gleeson M...Cunningham D	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	Roulot D...ANRS HC32 QUATTRO study group	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	Spencer A...Richardson P	29076150	2018
29	Randomized phase II trial comparing axitinib with the combination of axitinib and lomustine in patients with recurrent glioblastoma. ⁶²	Duerinck J...Neyns B	28988341	2018
30	Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. ⁶²	Sui JD...Wu YZ	29922039	2018
31	Thymus transplantation for complete DiGeorge syndrome: European experience. ⁶²	Davies EG...Thrasher AJ	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	Kuronya Z...Geczi L	28074331	2017
33	A 15-year single centre retrospective study of antiphospholipid syndrome patients from Northern Malaysia. ⁶²	Islam MA...Wong KK	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	Jang J...Shin JW	28341958	2017
35	Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes. ⁶²	Ong L...Ledgerwood EC	27861742	2017
36	Polyclonal and monoclonal antibodies for induction therapy in kidney transplant recipients. ⁶²	Hill P...Webster AC	28073178	2017
37	Outcomes of first line chemotherapy in patients with chronic lymphocytic leukemia. ⁶²	Nazir A...Hameed A	27882024	2016
38	Update: Ongoing Zika Virus Transmission - Puerto Rico, November 1, 2015-July 7, 2016. ⁶²	Adams L...Rivera-Garcia B	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	Karsisiotis AI...Worrall JA	27461282	2016
40	Daclatasvir and asunaprevir plus peginterferon alfa and ribavirin in HCV genotype 1 or 4 non-responders. ⁶²	Jensen D...HALLMARK-QUAD Study Team	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	Yeo W...Yu SC	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	Brana I...Calvo E	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	Birschmann I...Koster A	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	Matti BF...Alwan AF	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	Hummel TR...Blaney SM	23554030	2013
46	A multi-institutional, phase II open-label study of ganitumab (AMG 479) in advanced carcinoid and pancreatic neuroendocrine tumors. ⁶²	Strosberg JR...Kulke MH	23572164	2013
47	Gemcitabine plus capecitabine in unselected patients with advanced pancreatic cancer. ⁶²	Hubner RA...Chau I	23462324	2013
48	Evaluation of vinorelbine-based chemotherapy as the second or further-line treatment in patients with metastatic breast cancer. ⁶²	Cybulska-Stopa B...Brandys A	23788967	2013
49	[Inherited paternal antigens induce pregnancy thrombocytopenia]. ⁶²	Xia JY...Wu XQ	23257447	2012
50	Chemosensitized radiosurgery for recurrent brain metastases. ⁶²	Roberge D...Pouliot JF	22910852	2012

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Genes for Thrombocytopenia 4

Genes related to Thrombocytopenia 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CYCS	Cytochrome C, Somatic	Protein Coding	1332.25	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	24326104 30051457 18345000 (more) 34355501 22102269

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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

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Expression for Thrombocytopenia 4

Search GEO for disease gene expression data for Thrombocytopenia 4.

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Pathways for Thrombocytopenia 4

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GO Terms for Thrombocytopenia 4

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Sources for Thrombocytopenia 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

THC4 MCID: THR048 MIFTS: 30	Thrombocytopenia 4 (THC4) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Thrombocytopenia 4 (THC4)

Aliases & Classifications for Thrombocytopenia 4

MalaCards integrated aliases for Thrombocytopenia 4:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Thrombocytopenia 4

Related Diseases for Thrombocytopenia 4

Diseases in the Thrombocytopenia family:

Diseases related to Thrombocytopenia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Thrombocytopenia 4

Human phenotypes related to Thrombocytopenia 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

Anatomical Context for Thrombocytopenia 4

Organs/tissues related to Thrombocytopenia 4:

Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

Genes for Thrombocytopenia 4

Genes related to Thrombocytopenia 4 (1 elite genes):

Variations for Thrombocytopenia 4

ClinVar genetic disease variations for Thrombocytopenia 4:

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

Expression for Thrombocytopenia 4

Pathways for Thrombocytopenia 4

GO Terms for Thrombocytopenia 4

Sources for Thrombocytopenia 4