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Thrombocytopenia 9(THC9)

MedGen UID:
1844414
•Concept ID:
C5882678
•
Disease or Syndrome
Synonyms: THC9; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 9
 
Gene (location): THPO (3q27.1)
 
Monarch Initiative: MONDO:0957572
OMIM®: 620478

Definition

Thrombocytopenia-9 (THC9) is an autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others do not show bleeding and thrombocytopenia may be an incidental finding. Platelets may show normal function and morphology or be slightly enlarged with platelet anisotropy (Noris et al., 2018; Cornish et al., 2020). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
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
Abnormal platelet aggregation
MedGen UID:
154224
•Concept ID:
C0541767
•
Finding
An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
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
Decreased circulating thrombopoietin concentration
MedGen UID:
1864120
•Concept ID:
C5936912
•
Finding
Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
Zhu Y, Liu K, Wang K, Zhu H
Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Treatment Response and Clinical Outcomes of Well-Differentiated High-Grade Neuroendocrine Tumors to Lutetium-177-DOTATATE.
Raj N, Coffman K, Le T, Do RKG, Rafailov J, Choi Y, Chou JF, Capanu M, Dunphy M, Fox JJ, Grewal RK, Reddy RP, Riedl C, Schoder H, Bodei L, Reidy-Lagunes D
Neuroendocrinology 2022;112(12):1177-1186. Epub 2022 May 24 doi: 10.1159/000525216. PMID: 35609558Free PMC Article
Valproic Acid in the Management of Delirium.
Cuartas CF, Davis M
Am J Hosp Palliat Care 2022 May;39(5):562-569. Epub 2021 Aug 19 doi: 10.1177/10499091211038371. PMID: 34409869

Recent clinical studies

Etiology

Feto-maternal outcomes of pregnancies in women with SLE: Experience from a tertiary care center of Asia.
Dur-E-Shahwar, Tanwir T, Raza A, Riaz M, Malik A, Ilyas S
Lupus 2023 Aug;32(9):1126-1133. Epub 2023 Jun 16 doi: 10.1177/09612033231184675. PMID: 37328160
PD-1 blockade combined with ICE regimen in relapsed/refractory diffuse large B-cell lymphoma.
Ping L, Gao Y, He Y, Bai B, Huang C, Shi L, Wang X, Huang H
Ann Hematol 2023 Aug;102(8):2189-2198. Epub 2023 Jun 12 doi: 10.1007/s00277-023-05292-5. PMID: 37306710
Impact of thrombocytopenia on hemorrhagic complications after endovascular therapy for acute large vessel occlusion: Sub-analysis of RESCUE-Japan registry 2.
Fujiwara S, Sakai N, Imamura H, Ohara N, Tanaka K, Yamagami H, Matsumoto Y, Takeuchi M, Uchida K, Yoshimura S, Morimoto T; RESCUE-Japan Registry 2 Investigators
J Neurol Sci 2023 Jun 15;449:120659. Epub 2023 Apr 13 doi: 10.1016/j.jns.2023.120659. PMID: 37079972
Pooled analysis of safety data from clinical trials evaluating acalabrutinib monotherapy in mature B-cell malignancies.
Furman RR, Byrd JC, Owen RG, O'Brien SM, Brown JR, Hillmen P, Stephens DM, Chernyukhin N, Lezhava T, Hamdy AM, Izumi R, Patel P, Baek M, Christian B, Dyer MJS, Streetly MJ, Sun C, Rule S, Wang M, Ghia P, Jurczak W, Pagel JM, Sharman JP
Leukemia 2021 Nov;35(11):3201-3211. Epub 2021 Apr 27 doi: 10.1038/s41375-021-01252-y. PMID: 33907299
Phase I First-in-Human Study of Venetoclax in Patients With Relapsed or Refractory Non-Hodgkin Lymphoma.
Davids MS, Roberts AW, Seymour JF, Pagel JM, Kahl BS, Wierda WG, Puvvada S, Kipps TJ, Anderson MA, Salem AH, Dunbar M, Zhu M, Peale F, Ross JA, Gressick L, Desai M, Kim SY, Verdugo M, Humerickhouse RA, Gordon GB, Gerecitano JF
J Clin Oncol 2017 Mar 10;35(8):826-833. Epub 2017 Jan 17 doi: 10.1200/JCO.2016.70.4320. PMID: 28095146Free PMC Article

Diagnosis

Feto-maternal outcomes of pregnancies in women with SLE: Experience from a tertiary care center of Asia.
Dur-E-Shahwar, Tanwir T, Raza A, Riaz M, Malik A, Ilyas S
Lupus 2023 Aug;32(9):1126-1133. Epub 2023 Jun 16 doi: 10.1177/09612033231184675. PMID: 37328160
Hematologic abnormalities in Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J
Mol Genet Metab 2022 Aug;136(4):324-329. Epub 2022 Jun 16 doi: 10.1016/j.ymgme.2022.06.003. PMID: 35786528Free PMC Article
Endoscopic ultrasound-guided portal pressure gradient with liver biopsy: 6 years of endo-hepatology in practice.
Choi AY, Kolb J, Shah S, Chahine A, Hashimoto R, Patel A, Tsujino T, Huang J, Hu KQ, Chang K, Samarasena JB
J Gastroenterol Hepatol 2022 Jul;37(7):1373-1379. Epub 2022 May 20 doi: 10.1111/jgh.15875. PMID: 35513894
Valproic Acid in the Management of Delirium.
Cuartas CF, Davis M
Am J Hosp Palliat Care 2022 May;39(5):562-569. Epub 2021 Aug 19 doi: 10.1177/10499091211038371. PMID: 34409869
Clinical and laboratory characteristics of Brazilian versus non-Brazilian primary antiphospholipid syndrome patients in AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) clinical database and repository.
de Azevedo Lopes E, Balbi GGM, Tektonidou MG, Pengo V, Sciascia S, Ugarte A, Belmont HM, Gerosa M, Fortin PR, Lopez-Pedrera C, Ji L, Cohen H, de Jesús GR, Branch DW, Nalli C, Petri M, Rodriguez E, Kello N, Ríos-Garcés R, Knight JS, Atsumi T, Willis R, Bertolaccini ML, Erkan D, Andrade D; APS ACTION
Adv Rheumatol 2021 Oct 28;61(1):64. doi: 10.1186/s42358-021-00222-3. PMID: 34711275

Therapy

Hematologic abnormalities in Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J
Mol Genet Metab 2022 Aug;136(4):324-329. Epub 2022 Jun 16 doi: 10.1016/j.ymgme.2022.06.003. PMID: 35786528Free PMC Article
Treatment Response and Clinical Outcomes of Well-Differentiated High-Grade Neuroendocrine Tumors to Lutetium-177-DOTATATE.
Raj N, Coffman K, Le T, Do RKG, Rafailov J, Choi Y, Chou JF, Capanu M, Dunphy M, Fox JJ, Grewal RK, Reddy RP, Riedl C, Schoder H, Bodei L, Reidy-Lagunes D
Neuroendocrinology 2022;112(12):1177-1186. Epub 2022 May 24 doi: 10.1159/000525216. PMID: 35609558Free PMC Article
Valproic Acid in the Management of Delirium.
Cuartas CF, Davis M
Am J Hosp Palliat Care 2022 May;39(5):562-569. Epub 2021 Aug 19 doi: 10.1177/10499091211038371. PMID: 34409869
Malignant cerebral infarction after ChAdOx1 nCov-19 vaccination: a catastrophic variant of vaccine-induced immune thrombotic thrombocytopenia.
De Michele M, Iacobucci M, Chistolini A, Nicolini E, Pulcinelli F, Cerbelli B, Merenda E, Schiavo OG, Sbardella E, Berto I, Petraglia L, Caracciolo N, Chiara M, Truglia S, Toni D
Nat Commun 2021 Aug 2;12(1):4663. doi: 10.1038/s41467-021-25010-x. PMID: 34341358Free PMC Article
Phase I First-in-Human Study of Venetoclax in Patients With Relapsed or Refractory Non-Hodgkin Lymphoma.
Davids MS, Roberts AW, Seymour JF, Pagel JM, Kahl BS, Wierda WG, Puvvada S, Kipps TJ, Anderson MA, Salem AH, Dunbar M, Zhu M, Peale F, Ross JA, Gressick L, Desai M, Kim SY, Verdugo M, Humerickhouse RA, Gordon GB, Gerecitano JF
J Clin Oncol 2017 Mar 10;35(8):826-833. Epub 2017 Jan 17 doi: 10.1200/JCO.2016.70.4320. PMID: 28095146Free PMC Article

Prognosis

PD-1 blockade combined with ICE regimen in relapsed/refractory diffuse large B-cell lymphoma.
Ping L, Gao Y, He Y, Bai B, Huang C, Shi L, Wang X, Huang H
Ann Hematol 2023 Aug;102(8):2189-2198. Epub 2023 Jun 12 doi: 10.1007/s00277-023-05292-5. PMID: 37306710
Endoscopic ultrasound-guided portal pressure gradient with liver biopsy: 6 years of endo-hepatology in practice.
Choi AY, Kolb J, Shah S, Chahine A, Hashimoto R, Patel A, Tsujino T, Huang J, Hu KQ, Chang K, Samarasena JB
J Gastroenterol Hepatol 2022 Jul;37(7):1373-1379. Epub 2022 May 20 doi: 10.1111/jgh.15875. PMID: 35513894
Safety Profile of Ixazomib in Patients with Relapsed/Refractory Multiple Myeloma in Japan: An All-case Post-marketing Surveillance.
Kakimoto Y, Hoshino M, Hashimoto M, Hiraizumi M, Shimizu K, Chou T
Intern Med 2022 May 1;61(9):1337-1343. Epub 2021 Oct 12 doi: 10.2169/internalmedicine.7768-21. PMID: 34645759Free PMC Article
Clinical and laboratory characteristics of Brazilian versus non-Brazilian primary antiphospholipid syndrome patients in AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) clinical database and repository.
de Azevedo Lopes E, Balbi GGM, Tektonidou MG, Pengo V, Sciascia S, Ugarte A, Belmont HM, Gerosa M, Fortin PR, Lopez-Pedrera C, Ji L, Cohen H, de Jesús GR, Branch DW, Nalli C, Petri M, Rodriguez E, Kello N, Ríos-Garcés R, Knight JS, Atsumi T, Willis R, Bertolaccini ML, Erkan D, Andrade D; APS ACTION
Adv Rheumatol 2021 Oct 28;61(1):64. doi: 10.1186/s42358-021-00222-3. PMID: 34711275
Pooled analysis of safety data from clinical trials evaluating acalabrutinib monotherapy in mature B-cell malignancies.
Furman RR, Byrd JC, Owen RG, O'Brien SM, Brown JR, Hillmen P, Stephens DM, Chernyukhin N, Lezhava T, Hamdy AM, Izumi R, Patel P, Baek M, Christian B, Dyer MJS, Streetly MJ, Sun C, Rule S, Wang M, Ghia P, Jurczak W, Pagel JM, Sharman JP
Leukemia 2021 Nov;35(11):3201-3211. Epub 2021 Apr 27 doi: 10.1038/s41375-021-01252-y. PMID: 33907299

Clinical prediction guides

Feto-maternal outcomes of pregnancies in women with SLE: Experience from a tertiary care center of Asia.
Dur-E-Shahwar, Tanwir T, Raza A, Riaz M, Malik A, Ilyas S
Lupus 2023 Aug;32(9):1126-1133. Epub 2023 Jun 16 doi: 10.1177/09612033231184675. PMID: 37328160
Treatment Response and Clinical Outcomes of Well-Differentiated High-Grade Neuroendocrine Tumors to Lutetium-177-DOTATATE.
Raj N, Coffman K, Le T, Do RKG, Rafailov J, Choi Y, Chou JF, Capanu M, Dunphy M, Fox JJ, Grewal RK, Reddy RP, Riedl C, Schoder H, Bodei L, Reidy-Lagunes D
Neuroendocrinology 2022;112(12):1177-1186. Epub 2022 May 24 doi: 10.1159/000525216. PMID: 35609558Free PMC Article
Endoscopic ultrasound-guided portal pressure gradient with liver biopsy: 6 years of endo-hepatology in practice.
Choi AY, Kolb J, Shah S, Chahine A, Hashimoto R, Patel A, Tsujino T, Huang J, Hu KQ, Chang K, Samarasena JB
J Gastroenterol Hepatol 2022 Jul;37(7):1373-1379. Epub 2022 May 20 doi: 10.1111/jgh.15875. PMID: 35513894
Malignant cerebral infarction after ChAdOx1 nCov-19 vaccination: a catastrophic variant of vaccine-induced immune thrombotic thrombocytopenia.
De Michele M, Iacobucci M, Chistolini A, Nicolini E, Pulcinelli F, Cerbelli B, Merenda E, Schiavo OG, Sbardella E, Berto I, Petraglia L, Caracciolo N, Chiara M, Truglia S, Toni D
Nat Commun 2021 Aug 2;12(1):4663. doi: 10.1038/s41467-021-25010-x. PMID: 34341358Free PMC Article
Phase I First-in-Human Study of Venetoclax in Patients With Relapsed or Refractory Non-Hodgkin Lymphoma.
Davids MS, Roberts AW, Seymour JF, Pagel JM, Kahl BS, Wierda WG, Puvvada S, Kipps TJ, Anderson MA, Salem AH, Dunbar M, Zhu M, Peale F, Ross JA, Gressick L, Desai M, Kim SY, Verdugo M, Humerickhouse RA, Gordon GB, Gerecitano JF
J Clin Oncol 2017 Mar 10;35(8):826-833. Epub 2017 Jan 17 doi: 10.1200/JCO.2016.70.4320. PMID: 28095146Free PMC Article

Recent systematic reviews

Valproic Acid in the Management of Delirium.
Cuartas CF, Davis M
Am J Hosp Palliat Care 2022 May;39(5):562-569. Epub 2021 Aug 19 doi: 10.1177/10499091211038371. PMID: 34409869

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