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Thrombocytopenia 9(THC9)

MedGen UID:
1047382
Concept ID:
CN372715
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]

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

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
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
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
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
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

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
Xu W, Yang S, Tam CS, Seymour JF, Zhou K, Opat S, Qiu L, Sun M, Wang T, Trotman J, Pan L, Gao S, Zhou J, Zhou D, Zhu J, Song Y, Hu J, Feng R, Huang H, Su D, Shi M, Li J
Adv Ther 2022 Sep;39(9):4250-4265. Epub 2022 Jul 28 doi: 10.1007/s12325-022-02238-7. PMID: 35900694
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
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
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

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
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
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
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
Clément-Zhao A, Auvray M, Aboudagga H, Blanc-Durand F, Angelergues A, Vano YA, Mercier F, El Awadly N, Verret B, Thibault C, Oudard S
BJU Int 2018 Feb;121(2):203-208. Epub 2017 Apr 27 doi: 10.1111/bju.13855. PMID: 28370882

Clinical prediction guides

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
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
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
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
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

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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