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Thrombocytopenia 10(THC10)

MedGen UID:
1847819
•Concept ID:
C5882682
•
Disease or Syndrome
Synonyms: THC10; THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 10
 
Gene (location): PTPRJ (11p11.2)
 
Monarch Initiative: MONDO:0957578
OMIM®: 620484

Definition

Thrombocytopenia-10 (THC10) is an autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Affected individuals may have mild bleeding tendency. Platelets are small, but do not show other morphologic defects. Platelets and megakaryocytes do show functional and developmental defects due to impaired activation of signaling pathways (Marconi et al., 2019). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
Menorrhagia
MedGen UID:
44358
•Concept ID:
C0025323
•
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Decreased mean platelet volume
MedGen UID:
853132
•Concept ID:
C1096368
•
Finding
Average platelet volume below the lower limit of the normal reference interval.
See: Feature record | Search on this feature
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature
Spontaneous, recurrent epistaxis
MedGen UID:
816045
•Concept ID:
C3809715
•
Finding
See: Feature record | Search on this feature
Petechiae
MedGen UID:
10680
•Concept ID:
C0031256
•
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
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Professional guidelines

PubMed

Epidemiological, clinical, biochemical, and treatment characteristics of brucellosis cases in Turkey.
Arslan M, Ertunç B, Düz ME, Menekşe E, Avci BY, Avci E, Yilmaz G
J Infect Dev Ctries 2024 Jul 29;18(7):1066-1073. doi: 10.3855/jidc.18977. PMID: 39078792
Postnatal treatment for children with fetal and neonatal alloimmune thrombocytopenia: a multicentre, retrospective, cohort study.
de Vos TW, Winkelhorst D, Árnadóttir V, van der Bom JG, Canals Surís C, Caram-Deelder C, Deschmann E, Haysom HE, Hverven HBC, Lozar Krivec J, McQuilten ZK, Muñiz-Diaz E, Nogués N, Oepkes D, Porcelijn L, van der Schoot CE, Saxonhouse M, Sola-Visner M, Tiblad E, Tiller H, Wood EM, Young V, Železnik M, de Haas M, Lopriore E
Lancet Haematol 2022 Nov;9(11):e844-e853. Epub 2022 Sep 12 doi: 10.1016/S2352-3026(22)00243-5. PMID: 36108655
Fondaparinux Pre-, Peri-, and/or Postpartum for the Prophylaxis/Treatment of Venous Thromboembolism (FondaPPP).
Dempfle CE, Koscielny J, Lindhoff-Last E, Linnemann B, Bux-Gewehr I, Kappert G, Scholz U, Kropff S, Eberle S, Bramlage P, Heinken A
Clin Appl Thromb Hemost 2021 Jan-Dec;27:10760296211014575. doi: 10.1177/10760296211014575. PMID: 33942675Free PMC Article

Recent clinical studies

Etiology

Elotuzumab plus pomalidomide and dexamethasone in relapsed/refractory multiple myeloma: Extended follow-up of a multicenter, retrospective real-world experience with 321 cases outside of controlled clinical trials.
Martino EA, Palmieri S, Galli M, Derudas D, Mina R, Della Pepa R, Zambello R, Vigna E, Bruzzese A, Mangiacavalli S, Zamagni E, Califano C, Musso M, Conticello C, Cerchione C, Mele G, Di Renzo N, Offidani M, Tarantini G, Casaluci GM, Rago A, Ria R, Uccello G, Barilà G, Palumbo G, Pettine L, Vincelli ID, Brunori M, Accardi F, Amico V, Amendola A, Fontana R, Bongarzoni V, Rossini B, Cotzia E, Gozzetti A, Rizzi R, Sgherza N, Reddiconto G, Maroccia A, Franceschini L, Bertuglia G, Nappi D, Barbieri E, Gamberi B, Petrucci MT, Di Raimondo F, Neri A, Morabito F, Musto P, Gentile M
Hematol Oncol 2024 Jul;42(4):e3290. doi: 10.1002/hon.3290. PMID: 38818978
Tislelizumab with gemcitabine and oxaliplatin in patients with relapsed or refractory classic Hodgkin lymphoma: a multicenter phase II trial.
Ding K, Liu H, Ma J, Yang H, Cao L, Wang H, Peng H, Shi W, Zhao X, Wu W, Zhu H, Li J, Fan L
Haematologica 2023 Aug 1;108(8):2146-2154. doi: 10.3324/haematol.2022.282266. PMID: 36700408Free PMC Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

Diagnosis

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Unraveling the Mystery of Polyvalent Immunoglobulins in Belgium: Do We Have an Indication?
de Meester C, Bourgeois J, Devriese S, San Miguel L
Int Arch Allergy Immunol 2021;182(11):1127-1134. Epub 2021 Jun 30 doi: 10.1159/000516951. PMID: 34192688
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Ruptured hemorrhagic corpus luteum as a presenting symptom of systemic lupus erythematous.
Feldman I, Alon B, Nesher G, Wolak T, Breuer GS
Clin Rheumatol 2020 Oct;39(10):3127-3129. Epub 2020 Jun 1 doi: 10.1007/s10067-020-05197-y. PMID: 32488769
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

Therapy

Sintilimab (anti-PD-1 antibody) plus chidamide (histone deacetylase inhibitor) in relapsed or refractory extranodal natural killer T-cell lymphoma (SCENT): a phase Ib/II study.
Gao Y, He H, Li X, Zhang L, Xu W, Feng R, Li W, Xiao Y, Liu X, Chen Y, Wang X, Bai B, Wu H, Cai Q, Li Z, Li J, Lin S, He Y, Ping L, Huang C, Mao J, Chen X, Zhao B, Huang H
Signal Transduct Target Ther 2024 May 17;9(1):121. doi: 10.1038/s41392-024-01825-0. PMID: 38755119Free PMC Article
Gemcitabine and Paclitaxel Versus Gemcitabine Alone After 5-Fluorouracil, Oxaliplatin, and Irinotecan in Metastatic Pancreatic Adenocarcinoma: A Randomized Phase III PRODIGE 65-UCGI 36-GEMPAX UNICANCER Study.
De La Fouchardière C, Malka D, Cropet C, Chabaud S, Raimbourg J, Botsen D, Launay S, Evesque L, Vienot A, Perrier H, Jary M, Rinaldi Y, Coutzac C, Bachet JB, Neuzillet C, Williet N, Desgrippes R, Grainville T, Aparicio T, Peytier A, Lecomte T, Roth GS, Thirot-Bidault A, Lachaux N, Bouché O, Ghiringhelli F
J Clin Oncol 2024 Mar 20;42(9):1055-1066. Epub 2024 Jan 17 doi: 10.1200/JCO.23.00795. PMID: 38232341
Pooled Safety Analysis of Single-Agent Lurbinectedin in Patients With Advanced Solid Tumours.
Leary A, Oaknin A, Trigo JM, Moreno V, Delord JP, Boni V, Braña I, Fernández C, Kahatt C, Nieto A, Cullell-Young M, Zeaiter A, Subbiah V
Eur J Cancer 2023 Oct;192:113259. Epub 2023 Jul 28 doi: 10.1016/j.ejca.2023.113259. PMID: 37634282
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Overall Survival Benefit in Patients With Rituximab-Refractory Indolent Non-Hodgkin Lymphoma Who Received Obinutuzumab Plus Bendamustine Induction and Obinutuzumab Maintenance in the GADOLIN Study.
Cheson BD, Chua N, Mayer J, Dueck G, Trněný M, Bouabdallah K, Fowler N, Delwail V, Press O, Salles G, Gribben JG, Lennard A, Lugtenburg PJ, Fingerle-Rowson G, Mattiello F, Knapp A, Sehn LH
J Clin Oncol 2018 Aug 1;36(22):2259-2266. Epub 2018 Mar 27 doi: 10.1200/JCO.2017.76.3656. PMID: 29584548

Prognosis

Elotuzumab plus pomalidomide and dexamethasone in relapsed/refractory multiple myeloma: Extended follow-up of a multicenter, retrospective real-world experience with 321 cases outside of controlled clinical trials.
Martino EA, Palmieri S, Galli M, Derudas D, Mina R, Della Pepa R, Zambello R, Vigna E, Bruzzese A, Mangiacavalli S, Zamagni E, Califano C, Musso M, Conticello C, Cerchione C, Mele G, Di Renzo N, Offidani M, Tarantini G, Casaluci GM, Rago A, Ria R, Uccello G, Barilà G, Palumbo G, Pettine L, Vincelli ID, Brunori M, Accardi F, Amico V, Amendola A, Fontana R, Bongarzoni V, Rossini B, Cotzia E, Gozzetti A, Rizzi R, Sgherza N, Reddiconto G, Maroccia A, Franceschini L, Bertuglia G, Nappi D, Barbieri E, Gamberi B, Petrucci MT, Di Raimondo F, Neri A, Morabito F, Musto P, Gentile M
Hematol Oncol 2024 Jul;42(4):e3290. doi: 10.1002/hon.3290. PMID: 38818978
Tislelizumab with gemcitabine and oxaliplatin in patients with relapsed or refractory classic Hodgkin lymphoma: a multicenter phase II trial.
Ding K, Liu H, Ma J, Yang H, Cao L, Wang H, Peng H, Shi W, Zhao X, Wu W, Zhu H, Li J, Fan L
Haematologica 2023 Aug 1;108(8):2146-2154. doi: 10.3324/haematol.2022.282266. PMID: 36700408Free PMC Article
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Overall Survival Benefit in Patients With Rituximab-Refractory Indolent Non-Hodgkin Lymphoma Who Received Obinutuzumab Plus Bendamustine Induction and Obinutuzumab Maintenance in the GADOLIN Study.
Cheson BD, Chua N, Mayer J, Dueck G, Trněný M, Bouabdallah K, Fowler N, Delwail V, Press O, Salles G, Gribben JG, Lennard A, Lugtenburg PJ, Fingerle-Rowson G, Mattiello F, Knapp A, Sehn LH
J Clin Oncol 2018 Aug 1;36(22):2259-2266. Epub 2018 Mar 27 doi: 10.1200/JCO.2017.76.3656. PMID: 29584548
Idelalisib: A Novel PI3Kδ Inhibitor for Chronic Lymphocytic Leukemia.
Shah A, Mangaonkar A
Ann Pharmacother 2015 Oct;49(10):1162-70. Epub 2015 Jul 16 doi: 10.1177/1060028015594813. PMID: 26185276

Clinical prediction guides

Sintilimab (anti-PD-1 antibody) plus chidamide (histone deacetylase inhibitor) in relapsed or refractory extranodal natural killer T-cell lymphoma (SCENT): a phase Ib/II study.
Gao Y, He H, Li X, Zhang L, Xu W, Feng R, Li W, Xiao Y, Liu X, Chen Y, Wang X, Bai B, Wu H, Cai Q, Li Z, Li J, Lin S, He Y, Ping L, Huang C, Mao J, Chen X, Zhao B, Huang H
Signal Transduct Target Ther 2024 May 17;9(1):121. doi: 10.1038/s41392-024-01825-0. PMID: 38755119Free PMC Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Severe immune thrombocytopenic purpura in critical COVID-19.
Lévesque V, Millaire É, Corsilli D, Rioux-Massé B, Carrier FM
Int J Hematol 2020 Nov;112(5):746-750. Epub 2020 Jul 1 doi: 10.1007/s12185-020-02931-9. PMID: 32613314Free PMC Article
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

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