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  • CN372715 has been replaced by C5882678, showing C5882678

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:
1053631
•Concept ID:
CN376536
•
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
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
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
Efficacy of second-line chemotherapy in poor-risk patients with refractory-relapsed small-cell lung cancer.
Wakuda K, Kobayashi H, Omori S, Nakashima K, Ono A, Kenmotsu H, Naito T, Murakami H, Endo M, Nakajima T, Takahashi T
Jpn J Clin Oncol 2018 Sep 1;48(9):822-826. doi: 10.1093/jjco/hyy107. PMID: 30113639
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
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
Gemcitabine-cisplatin versus gemcitabine-oxaliplatin doublet chemotherapy in advanced gallbladder cancers: a match pair analysis.
Ramaswamy A, Ostwal V, Pinninti R, Kannan S, Bhargava P, Nashikkar C, Mirani J, Banavali S
J Hepatobiliary Pancreat Sci 2017 May;24(5):262-267. Epub 2017 Apr 11 doi: 10.1002/jhbp.439. PMID: 28196310

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
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
Efficacy of second-line chemotherapy in poor-risk patients with refractory-relapsed small-cell lung cancer.
Wakuda K, Kobayashi H, Omori S, Nakashima K, Ono A, Kenmotsu H, Naito T, Murakami H, Endo M, Nakajima T, Takahashi T
Jpn J Clin Oncol 2018 Sep 1;48(9):822-826. doi: 10.1093/jjco/hyy107. PMID: 30113639
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
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
Gemcitabine-cisplatin versus gemcitabine-oxaliplatin doublet chemotherapy in advanced gallbladder cancers: a match pair analysis.
Ramaswamy A, Ostwal V, Pinninti R, Kannan S, Bhargava P, Nashikkar C, Mirani J, Banavali S
J Hepatobiliary Pancreat Sci 2017 May;24(5):262-267. Epub 2017 Apr 11 doi: 10.1002/jhbp.439. PMID: 28196310
Sheehan's syndrome as a rare cause of anaemia secondary to hypopituitarism.
Gokalp D, Tuzcu A, Bahceci M, Arikan S, Bahceci S, Pasa S
Ann Hematol 2009 May;88(5):405-10. Epub 2008 Sep 17 doi: 10.1007/s00277-008-0607-4. PMID: 18797868

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
Efficacy of second-line chemotherapy in poor-risk patients with refractory-relapsed small-cell lung cancer.
Wakuda K, Kobayashi H, Omori S, Nakashima K, Ono A, Kenmotsu H, Naito T, Murakami H, Endo M, Nakajima T, Takahashi T
Jpn J Clin Oncol 2018 Sep 1;48(9):822-826. doi: 10.1093/jjco/hyy107. PMID: 30113639
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
Sargramostim (GM-CSF) and lenalidomide in castration-resistant prostate cancer (CRPC): results from a phase I-II clinical trial.
Garcia JA, Elson P, Tyler A, Triozzi P, Dreicer R
Urol Oncol 2014 Jan;32(1):33.e11-7. Epub 2013 Mar 17 doi: 10.1016/j.urolonc.2012.12.004. PMID: 23510862
A phase I trial of liposomal doxorubicin, bevacizumab, and temsirolimus in patients with advanced gynecologic and breast malignancies.
Moroney JW, Schlumbrecht MP, Helgason T, Coleman RL, Moulder S, Naing A, Bodurka DC, Janku F, Hong DS, Kurzrock R
Clin Cancer Res 2011 Nov 1;17(21):6840-6. Epub 2011 Sep 2 doi: 10.1158/1078-0432.CCR-11-0666. PMID: 21890452Free 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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