U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thrombocytopenia 4(THC4)

MedGen UID:
394329
Concept ID:
C2677608
Disease or Syndrome
Synonyms: THC4; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
 
Gene (location): CYCS (7p15.3)
 
Monarch Initiative: MONDO:0012775
OMIM®: 612004

Definition

Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. [from MONDO]

Clinical features

From HPO
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Abnormal platelet volume
MedGen UID:
868747
Concept ID:
C4023152
Anatomical Abnormality
Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.

Professional guidelines

PubMed

Pasello G, Carli P, Canova F, Bonanno L, Polo V, Zago G, Urso L, Conte P, Favaretto A
Anticancer Res 2015 Apr;35(4):2183-9. PMID: 25862876
Schirmer-Mikalsen K, Moen KG, Skandsen T, Vik A, Klepstad P
Acta Anaesthesiol Scand 2013 Jan;57(1):46-55. Epub 2012 Oct 24 doi: 10.1111/j.1399-6576.2012.02785.x. PMID: 23095138
McCormack PL, Keam SJ
Drugs 2011 Sep 10;71(13):1771-95. doi: 10.2165/11207580-000000000-00000. PMID: 21902298

Recent clinical studies

Etiology

De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Liu Y, Dong Y, Zhu H, Jing W, Guo H, Yu J
Cancer Med 2020 Feb;9(4):1365-1373. Epub 2019 Dec 26 doi: 10.1002/cam4.2791. PMID: 31876976Free PMC Article
Oudard S, Latorzeff I, Caty A, Miglianico L, Sevin E, Hardy-Bessard AC, Delva R, Rolland F, Mouret L, Priou F, Beuzeboc P, Gravis G, Linassier C, Gomez P, Voog E, Muracciole X, Abraham C, Banu E, Ferrero JM, Ravaud A, Krakowski I, Lagrange JL, Deplanque G, Zylberait D, Bozec L, Houede N, Culine S, Elaidi R
JAMA Oncol 2019 May 1;5(5):623-632. doi: 10.1001/jamaoncol.2018.6607. PMID: 30703190Free PMC Article
Hill P, Cross NB, Barnett AN, Palmer SC, Webster AC
Cochrane Database Syst Rev 2017 Jan 11;1(1):CD004759. doi: 10.1002/14651858.CD004759.pub2. PMID: 28073178Free PMC Article
Jensen D, Sherman KE, Hézode C, Pol S, Zeuzem S, de Ledinghen V, Tran A, Elkhashab M, Younes ZH, Kugelmas M, Mauss S, Everson G, Luketic V, Vierling J, Serfaty L, Brunetto M, Heo J, Bernstein D, McPhee F, Hennicken D, Mendez P, Hughes E, Noviello S; HALLMARK-QUAD Study Team
J Hepatol 2015 Jul;63(1):30-7. Epub 2015 Feb 19 doi: 10.1016/j.jhep.2015.02.018. PMID: 25703086

Diagnosis

De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Verstovsek S, Mesa R, Gupta V, Lavie D, Dubruille V, Cambier N, Platzbecker U, Hus M, Xicoy B, Oh ST, Kiladjian JJ, Vannucchi AM, Gerds A, Egyed M, Mayer J, Sacha T, Kawashima J, Morris M, Huang M, Harrison C
Blood Adv 2023 Jul 25;7(14):3582-3591. doi: 10.1182/bloodadvances.2022009311. PMID: 37042865Free PMC Article
Liu Y, Dong Y, Zhu H, Jing W, Guo H, Yu J
Cancer Med 2020 Feb;9(4):1365-1373. Epub 2019 Dec 26 doi: 10.1002/cam4.2791. PMID: 31876976Free PMC Article
Bashir S, Mukund A, Syed RF, Nayak SL, Rastogi A, Sarin SK
J Vasc Interv Radiol 2018 May;29(5):696-703. Epub 2018 Mar 22 doi: 10.1016/j.jvir.2017.11.029. PMID: 29576494
Adams L, Bello-Pagan M, Lozier M, Ryff KR, Espinet C, Torres J, Perez-Padilla J, Febo MF, Dirlikov E, Martinez A, Munoz-Jordan J, Garcia M, Segarra MO, Malave G, Rivera A, Shapiro-Mendoza C, Rosinger A, Kuehnert MJ, Chung KW, Pate LL, Harris A, Hemme RR, Lenhart A, Aquino G, Zaki S, Read JS, Waterman SH, Alvarado LI, Alvarado-Ramy F, Valencia-Prado M, Thomas D, Sharp TM, Rivera-Garcia B
MMWR Morb Mortal Wkly Rep 2016 Aug 5;65(30):774-9. doi: 10.15585/mmwr.mm6530e1. PMID: 27490087

Therapy

Gomez-Lumbreras A, Mercadal Vilchez S, Villa-Zapata L, Malone DC, Couriel DR
Leuk Lymphoma 2023 Dec;64(13):2071-2080. Epub 2023 Sep 14 doi: 10.1080/10428194.2023.2254430. PMID: 37708442
Verstovsek S, Mesa R, Gupta V, Lavie D, Dubruille V, Cambier N, Platzbecker U, Hus M, Xicoy B, Oh ST, Kiladjian JJ, Vannucchi AM, Gerds A, Egyed M, Mayer J, Sacha T, Kawashima J, Morris M, Huang M, Harrison C
Blood Adv 2023 Jul 25;7(14):3582-3591. doi: 10.1182/bloodadvances.2022009311. PMID: 37042865Free PMC Article
Takayama K, Ichiki M, Matsumoto T, Ebi N, Akamine S, Tokunaga S, Yamada T, Uchino J, Nakanishi Y
Oncologist 2020 Mar;25(3):208-e417. Epub 2019 Oct 21 doi: 10.1634/theoncologist.2019-0717. PMID: 32162814Free PMC Article
Liu Y, Dong Y, Zhu H, Jing W, Guo H, Yu J
Cancer Med 2020 Feb;9(4):1365-1373. Epub 2019 Dec 26 doi: 10.1002/cam4.2791. PMID: 31876976Free PMC Article
Hill P, Cross NB, Barnett AN, Palmer SC, Webster AC
Cochrane Database Syst Rev 2017 Jan 11;1(1):CD004759. doi: 10.1002/14651858.CD004759.pub2. PMID: 28073178Free PMC Article

Prognosis

Pan F, Ruan Z, Li J, Pang X, Zhang Y, Zou L, Liang H
Med Oncol 2015 Nov;32(11):252. Epub 2015 Oct 15 doi: 10.1007/s12032-015-0698-4. PMID: 26471179
Jensen D, Sherman KE, Hézode C, Pol S, Zeuzem S, de Ledinghen V, Tran A, Elkhashab M, Younes ZH, Kugelmas M, Mauss S, Everson G, Luketic V, Vierling J, Serfaty L, Brunetto M, Heo J, Bernstein D, McPhee F, Hennicken D, Mendez P, Hughes E, Noviello S; HALLMARK-QUAD Study Team
J Hepatol 2015 Jul;63(1):30-7. Epub 2015 Feb 19 doi: 10.1016/j.jhep.2015.02.018. PMID: 25703086
Roberge D, Souhami L, Fortin MA, Pouliot JF
J Neurooncol 2012 Nov;110(2):265-70. Epub 2012 Aug 22 doi: 10.1007/s11060-012-0965-6. PMID: 22910852
Pasello G, Nicotra S, Marulli G, Rea F, Bonanno L, Carli P, Magro C, Jirillo A, Favaretto A
Lung Cancer 2011 Sep;73(3):351-5. Epub 2011 Feb 5 doi: 10.1016/j.lungcan.2011.01.005. PMID: 21296448
Conley ME, Park CL, Douglas SD
J Pediatr 1986 Jun;108(6):915-22. doi: 10.1016/s0022-3476(86)80927-1. PMID: 2423668

Clinical prediction guides

De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Heck MM, Tauber R, Schwaiger S, Retz M, D'Alessandria C, Maurer T, Gafita A, Wester HJ, Gschwend JE, Weber WA, Schwaiger M, Knorr K, Eiber M
Eur Urol 2019 Jun;75(6):920-926. Epub 2018 Nov 22 doi: 10.1016/j.eururo.2018.11.016. PMID: 30473431
Islam MA, Alam F, Gan SH, Sasongko TH, Wan Ghazali WS, Wong KK
Malays J Pathol 2017 Aug;39(2):123-133. PMID: 28866693
Jensen D, Sherman KE, Hézode C, Pol S, Zeuzem S, de Ledinghen V, Tran A, Elkhashab M, Younes ZH, Kugelmas M, Mauss S, Everson G, Luketic V, Vierling J, Serfaty L, Brunetto M, Heo J, Bernstein D, McPhee F, Hennicken D, Mendez P, Hughes E, Noviello S; HALLMARK-QUAD Study Team
J Hepatol 2015 Jul;63(1):30-7. Epub 2015 Feb 19 doi: 10.1016/j.jhep.2015.02.018. PMID: 25703086
Roberge D, Souhami L, Fortin MA, Pouliot JF
J Neurooncol 2012 Nov;110(2):265-70. Epub 2012 Aug 22 doi: 10.1007/s11060-012-0965-6. PMID: 22910852

Recent systematic reviews

Plattel WJ, Bergamasco A, Trinchese F, Gavini F, Bent-Ennakhil N, Zomas A, Castillon G, Arredondo-Bisono T, Cristarella T, Moride Y, von Tresckow B
Leuk Lymphoma 2021 Dec;62(14):3320-3332. Epub 2021 Jul 29 doi: 10.1080/10428194.2021.1957865. PMID: 34323643
Tong H, Fan Z, Liu B, Lu T
Sci Rep 2018 Jun 6;8(1):8666. doi: 10.1038/s41598-018-26811-9. PMID: 29875415Free PMC Article
Hill P, Cross NB, Barnett AN, Palmer SC, Webster AC
Cochrane Database Syst Rev 2017 Jan 11;1(1):CD004759. doi: 10.1002/14651858.CD004759.pub2. PMID: 28073178Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...