U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal platelet ATP dense granule secretion

MedGen UID:
892923
•Concept ID:
C4072931
•
Cell or Molecular Dysfunction
HPO: HP:0030398

Definition

Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal platelet ATP dense granule secretion

Recent clinical studies

Etiology

Update on diagnostic testing for platelet function disorders: What is practical and useful?
Hayward CPM, Moffat KA, Brunet J, Carlino SA, Plumhoff E, Meijer P, Zehnder JL
Int J Lab Hematol 2019 May;41 Suppl 1:26-32. doi: 10.1111/ijlh.12995. PMID: 31069975
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.
Goubau C, Jaeken J, Levtchenko EN, Thys C, Di Michele M, Martens GA, Gerlo E, De Vos R, Buyse GM, Goemans N, Van Geet C, Freson K
Genet Med 2013 Jan;15(1):55-63. Epub 2012 Aug 16 doi: 10.1038/gim.2012.90. PMID: 22899094
Storage pool disease in chronic lymphocytic leukemia: abnormal aggregation and secretion without bleeding.
Carr ME Jr, Hines S, Carr SL, Todd WM, Taylor TL, Mohanty L
Am J Med Sci 1997 Mar;313(3):176-81. doi: 10.1097/00000441-199703000-00009. PMID: 9075435
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
Novak EK, Hui SW, Swank RT
Blood 1984 Mar;63(3):536-44. PMID: 6696991
Platelet density analysis: a tool for the detection of acquired storage pool disease in man.
Boneu B, Sié P, Eche N, Caranobe C, Hugo B, Nouvel C
Br J Haematol 1983 Nov;55(3):523-32. doi: 10.1111/j.1365-2141.1983.tb02167.x. PMID: 6227333

Diagnosis

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G
Cold Spring Harb Mol Case Stud 2021 Oct;7(5) Epub 2021 Oct 19 doi: 10.1101/mcs.a006110. PMID: 34362826Free PMC Article
Update on diagnostic testing for platelet function disorders: What is practical and useful?
Hayward CPM, Moffat KA, Brunet J, Carlino SA, Plumhoff E, Meijer P, Zehnder JL
Int J Lab Hematol 2019 May;41 Suppl 1:26-32. doi: 10.1111/ijlh.12995. PMID: 31069975
Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: Implications for diagnosing suspected platelet function disorders due to dense granule deficiency.
Brunet JG, Iyer JK, Badin MS, Graf L, Moffat KA, Timleck M, Spitzer E, Hayward CPM
Int J Lab Hematol 2018 Aug;40(4):400-407. Epub 2018 Mar 6 doi: 10.1111/ijlh.12801. PMID: 29508516
Usefulness of Flow Cytometric Mepacrine Uptake/Release Combined with CD63 Assay in Diagnosis of Patients with Suspected Platelet Dense Granule Disorder.
Cai H, Mullier F, Frotscher B, Briquel ME, Toussaint M, Massin F, Lecompte T, Latger-Cannard V
Semin Thromb Hemost 2016 Apr;42(3):282-91. Epub 2016 Feb 12 doi: 10.1055/s-0035-1564836. PMID: 26871254
The value of proteomics for the diagnosis of a platelet-related bleeding disorder.
Maurer-Spurej E, Kahr WH, Carter CJ, Pittendreigh C, Cameron M, Cyr TD
Platelets 2008 Aug;19(5):342-51. doi: 10.1080/09537100802010547. PMID: 18791940

Therapy

Platelet bioenergetic profiling uncovers a metabolic pattern of high dependency on mitochondrial fatty acid oxidation in type 2 diabetic patients who developed in-stent restenosis.
Wang XB, Cui NH, Fang ZQ, Gao MJ, Cai D
Redox Biol 2024 Jun;72:103146. Epub 2024 Apr 2 doi: 10.1016/j.redox.2024.103146. PMID: 38579589Free PMC Article
Anti-Thrombotic Effects of Artesunate through Regulation of cAMP and PI3K/MAPK Pathway on Human Platelets.
Yoon SS, Kwon HW, Shin JH, Rhee MH, Park CE, Lee DH
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031586. PMID: 35163507Free PMC Article
Effects of chronic administration of valproic acid to epileptic patients on coagulation tests and primary hemostasis.
Zighetti ML, Fontana G, Lussana F, Chiesa V, Vignoli A, Canevini MP, Cattaneo M
Epilepsia 2015 May;56(5):e49-52. Epub 2015 Mar 11 doi: 10.1111/epi.12952. PMID: 25757394
Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.
Dawood BB, Lowe GC, Lordkipanidzé M, Bem D, Daly ME, Makris M, Mumford A, Wilde JT, Watson SP
Blood 2012 Dec 13;120(25):5041-9. Epub 2012 Sep 21 doi: 10.1182/blood-2012-07-444281. PMID: 23002116Free PMC Article
Platelets acquire a secretion defect after high-dose chemotherapy.
Panella TJ, Peters W, White JG, Hannun YA, Greenberg CS
Cancer 1990 Apr 15;65(8):1711-6. doi: 10.1002/1097-0142(19900415)65:8<1711::aid-cncr2820650808>3.0.co;2-w. PMID: 2317753

Clinical prediction guides

Platelet bioenergetic profiling uncovers a metabolic pattern of high dependency on mitochondrial fatty acid oxidation in type 2 diabetic patients who developed in-stent restenosis.
Wang XB, Cui NH, Fang ZQ, Gao MJ, Cai D
Redox Biol 2024 Jun;72:103146. Epub 2024 Apr 2 doi: 10.1016/j.redox.2024.103146. PMID: 38579589Free PMC Article
Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: Implications for diagnosing suspected platelet function disorders due to dense granule deficiency.
Brunet JG, Iyer JK, Badin MS, Graf L, Moffat KA, Timleck M, Spitzer E, Hayward CPM
Int J Lab Hematol 2018 Aug;40(4):400-407. Epub 2018 Mar 6 doi: 10.1111/ijlh.12801. PMID: 29508516
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K
Hum Mol Genet 2013 Jan 1;22(1):61-73. Epub 2012 Sep 24 doi: 10.1093/hmg/dds401. PMID: 23010472
Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency.
Weiss HJ, Lages B, Vicic W, Tsung LY, White JG
Br J Haematol 1993 Feb;83(2):282-95. doi: 10.1111/j.1365-2141.1993.tb08284.x. PMID: 8457477
Changes in platelet beta-thromboglobulin, fibrinogen, albumin, 5-hydroxytryptamine, ATP, and ADP during and after surgery with extracorporeal circulation in man.
Mezzano D, Aranda E, Urzúa J, Lema G, Habash J, Irarrázabal MJ, Pereira J
Am J Hematol 1986 Jun;22(2):133-42. doi: 10.1002/ajh.2830220204. PMID: 2422929

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...