U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thrombocytopenia 7(THC7)

MedGen UID:
1768257
Concept ID:
C5436874
Disease or Syndrome
Synonym: THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 7
 
Gene (location): IKZF5 (10q26.13)
 
Monarch Initiative: MONDO:0030867
OMIM®: 619130

Definition

Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
Post-partum hemorrhage
MedGen UID:
18592
Concept ID:
C0032797
Pathologic Function
Significant maternal haemorrhage/blood loss following deilvery of a child.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Impaired ristocetin-induced platelet aggregation
MedGen UID:
868749
Concept ID:
C4023154
Pathologic Function
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
Impaired arachidonic acid-induced platelet aggregation
MedGen UID:
868750
Concept ID:
C4023155
Pathologic Function
Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
Concept ID:
C4024703
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Impaired ADP-induced platelet aggregation
MedGen UID:
870824
Concept ID:
C4025282
Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
Reduced platelet dense granules
MedGen UID:
1785275
Concept ID:
C5539663
Finding
Decreased number of platelet dense granules, a type of platelet organelle.
Reduced platelet alpha granules
MedGen UID:
1789060
Concept ID:
C5539664
Finding
A reduced number of platelet alpha granules.

Professional guidelines

PubMed

Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P
Bone 2022 Jan;154:116229. Epub 2021 Oct 8 doi: 10.1016/j.bone.2021.116229. PMID: 34624559
Somasegar S, Hoppenot C, Kuchta K, Sereika A, Khandekar J, Rodriguez G, Moore E, Hurteau J, Vogel TJ
Gynecol Oncol 2021 Nov;163(2):220-228. Epub 2021 Sep 9 doi: 10.1016/j.ygyno.2021.08.027. PMID: 34511240
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982

Recent clinical studies

Etiology

Vergote I, Pérez-Fidalgo JA, Hamilton EP, Valabrega G, Van Gorp T, Sehouli J, Cibula D, Levy T, Welch S, Richardson DL, Guerra EM, Scambia G, Henry S, Wimberger P, Miller DS, Klat J, Martínez-Garcia J, Raspagliesi F, Pothuri B, Romero I, Bergamini A, Slomovitz B, Schochter F, Høgdall E, Fariñas-Madrid L, Monk BJ, Michel D, Kauffman MG, Shacham S, Mirza MR, Makker V; ENGOT-EN5/GOG-3055/SIENDO Investigators
J Clin Oncol 2023 Dec 10;41(35):5400-5410. Epub 2023 Sep 5 doi: 10.1200/JCO.22.02906. PMID: 37669480
Park BD, Kumar M, Nagalla S, De Simone N, Aster RH, Padmanabhan A, Sarode R, Rambally S
Transfus Apher Sci 2018 Aug;57(4):561-565. Epub 2018 Jun 26 doi: 10.1016/j.transci.2018.06.007. PMID: 30244713Free PMC Article
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982
Jain R, Chartash E, Susin M, Furie R
Semin Arthritis Rheum 1994 Dec;24(3):173-82. doi: 10.1016/0049-0172(94)90073-6. PMID: 7899875

Diagnosis

Shen X, Huang Y, Guo H, Peng H, Yao S, Zhou M, Liu H, Lin HC, Zhou P
Clin Res Hepatol Gastroenterol 2021 Mar;45(2):101495. Epub 2020 Jul 25 doi: 10.1016/j.clinre.2020.06.019. PMID: 32723673
Zhang Y, Suo SS, Yang HJ, Zhou XP, You LS, Yu WJ, Wang ZM, Jin J
J Cancer Res Clin Oncol 2020 Feb;146(2):357-365. Epub 2020 Jan 14 doi: 10.1007/s00432-019-03120-w. PMID: 31938902Free PMC Article
Paludo J, Abeykoon JP, Kumar S, Shreders A, Ailawadhi S, Gertz MA, Kourelis T, King RL, Reeder CB, Leung N, Kyle RA, Buadi FK, Habermann TM, Dingli D, Witzig TE, Dispenzieri A, Lacy MQ, Go RS, Lin Y, Gonsalves WI, Warsame R, Lust JA, Rajkumar SV, Ansell SM, Kapoor P
Br J Haematol 2017 Oct;179(1):98-105. Epub 2017 Aug 8 doi: 10.1111/bjh.14826. PMID: 28786474
Bonifacio L, Petrova A, Nanjundaswamy S, Mehta R
Indian J Pediatr 2007 Mar;74(3):269-74. doi: 10.1007/s12098-007-0042-x. PMID: 17401266
Jain R, Chartash E, Susin M, Furie R
Semin Arthritis Rheum 1994 Dec;24(3):173-82. doi: 10.1016/0049-0172(94)90073-6. PMID: 7899875

Therapy

Vergote I, Pérez-Fidalgo JA, Hamilton EP, Valabrega G, Van Gorp T, Sehouli J, Cibula D, Levy T, Welch S, Richardson DL, Guerra EM, Scambia G, Henry S, Wimberger P, Miller DS, Klat J, Martínez-Garcia J, Raspagliesi F, Pothuri B, Romero I, Bergamini A, Slomovitz B, Schochter F, Høgdall E, Fariñas-Madrid L, Monk BJ, Michel D, Kauffman MG, Shacham S, Mirza MR, Makker V; ENGOT-EN5/GOG-3055/SIENDO Investigators
J Clin Oncol 2023 Dec 10;41(35):5400-5410. Epub 2023 Sep 5 doi: 10.1200/JCO.22.02906. PMID: 37669480
Twu CW, Lin PJ, Tsou HH, Liu YC, Jiang RS, Liang KL, Lin TY, Wang WY, Lin JC
Head Neck 2022 Jun;44(6):1453-1461. Epub 2022 Apr 1 doi: 10.1002/hed.27044. PMID: 35362634
Paludo J, Abeykoon JP, Kumar S, Shreders A, Ailawadhi S, Gertz MA, Kourelis T, King RL, Reeder CB, Leung N, Kyle RA, Buadi FK, Habermann TM, Dingli D, Witzig TE, Dispenzieri A, Lacy MQ, Go RS, Lin Y, Gonsalves WI, Warsame R, Lust JA, Rajkumar SV, Ansell SM, Kapoor P
Br J Haematol 2017 Oct;179(1):98-105. Epub 2017 Aug 8 doi: 10.1111/bjh.14826. PMID: 28786474
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982

Prognosis

Schultz NH, Sørvoll IH, Michelsen AE, Munthe LA, Lund-Johansen F, Ahlen MT, Wiedmann M, Aamodt AH, Skattør TH, Tjønnfjord GE, Holme PA
N Engl J Med 2021 Jun 3;384(22):2124-2130. Epub 2021 Apr 9 doi: 10.1056/NEJMoa2104882. PMID: 33835768Free PMC Article
Du Y, Cao Q, Jiang C, Liang H, Ning Z, Ji C, Wang J, Zhou C, Jiang Z, Yu C, Li L, Zhao Y, Xu Y, Xu T, Hu W, Wang D, Cheng H, Wang G, Zhou J, Wang S, Zhang Y, Hu Z, Li X, Lu D, Zhang J, Xie H, Sun G
Cancer Med 2020 Jul;9(14):5008-5014. Epub 2020 May 22 doi: 10.1002/cam4.3105. PMID: 32441892Free PMC Article
Zhang Y, Suo SS, Yang HJ, Zhou XP, You LS, Yu WJ, Wang ZM, Jin J
J Cancer Res Clin Oncol 2020 Feb;146(2):357-365. Epub 2020 Jan 14 doi: 10.1007/s00432-019-03120-w. PMID: 31938902Free PMC Article
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982

Clinical prediction guides

Twu CW, Lin PJ, Tsou HH, Liu YC, Jiang RS, Liang KL, Lin TY, Wang WY, Lin JC
Head Neck 2022 Jun;44(6):1453-1461. Epub 2022 Apr 1 doi: 10.1002/hed.27044. PMID: 35362634
Du Y, Cao Q, Jiang C, Liang H, Ning Z, Ji C, Wang J, Zhou C, Jiang Z, Yu C, Li L, Zhao Y, Xu Y, Xu T, Hu W, Wang D, Cheng H, Wang G, Zhou J, Wang S, Zhang Y, Hu Z, Li X, Lu D, Zhang J, Xie H, Sun G
Cancer Med 2020 Jul;9(14):5008-5014. Epub 2020 May 22 doi: 10.1002/cam4.3105. PMID: 32441892Free PMC Article
Li J, Yao X, Kortmansky JS, Fischbach NA, Stein S, Deng Y, Zhang Y, Doddamane I, Karimeddini D, Hochster HS, Lacy J
Am J Clin Oncol 2017 Apr;40(2):146-151. doi: 10.1097/COC.0000000000000114. PMID: 25144267
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982
Steinberg M
Clin Ther 2008 Sep;30(9):1590-617. doi: 10.1016/j.clinthera.2008.09.015. PMID: 18840366

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...