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Abnormal dense granule content

MedGen UID:
867462
Concept ID:
C4021839
Anatomical Abnormality
HPO: HP:0012529

Definition

A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal dense granule content

Conditions with this feature

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).

Recent clinical studies

Etiology

Banushi B, Simpson F
Cells 2022 Nov 21;11(22) doi: 10.3390/cells11223702. PMID: 36429129Free PMC Article
Nicolson TJ, Bellomo EA, Wijesekara N, Loder MK, Baldwin JM, Gyulkhandanyan AV, Koshkin V, Tarasov AI, Carzaniga R, Kronenberger K, Taneja TK, da Silva Xavier G, Libert S, Froguel P, Scharfmann R, Stetsyuk V, Ravassard P, Parker H, Gribble FM, Reimann F, Sladek R, Hughes SJ, Johnson PR, Masseboeuf M, Burcelin R, Baldwin SA, Liu M, Lara-Lemus R, Arvan P, Schuit FC, Wheeler MB, Chimienti F, Rutter GA
Diabetes 2009 Sep;58(9):2070-83. Epub 2009 Jun 19 doi: 10.2337/db09-0551. PMID: 19542200Free PMC Article
Rao AK, Jalagadugula G, Sun L
Semin Thromb Hemost 2004 Oct;30(5):525-35. doi: 10.1055/s-2004-835673. PMID: 15497095
D'Andrea G, Hasselmark L, Alecci M, Cananzi A, Perini F, Welch KM
J Neurol Neurosurg Psychiatry 1994 May;57(5):557-61. doi: 10.1136/jnnp.57.5.557. PMID: 8201323Free PMC Article
Gawaz MP, Bogner C, Gurland HJ
Haemostasis 1993 Sep-Oct;23(5):284-92. doi: 10.1159/000216888. PMID: 8175050

Diagnosis

Pluthero FG, Kahr WHA
Platelets 2023 Dec;34(1):2157808. doi: 10.1080/09537104.2022.2157808. PMID: 36572649
Aguilar A, Weber J, Boscher J, Freund M, Ziessel C, Eckly A, Magnenat S, Bourdon C, Hechler B, Mangin PH, Gachet C, Lanza F, Léon C
Blood Adv 2019 Aug 13;3(15):2368-2380. doi: 10.1182/bloodadvances.2019031286. PMID: 31399401Free PMC Article
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
Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L
Pigment Cell Res 1998 Apr;11(2):60-80. doi: 10.1111/j.1600-0749.1998.tb00713.x. PMID: 9585243
Weiss HJ, Lages B
Blood 1981 Jul;58(1):27-33. PMID: 6786394

Therapy

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
Yechoor V, Liu V, Paul A, Lee J, Buras E, Ozer K, Samson S, Chan L
Endocrinology 2009 Nov;150(11):4863-73. Epub 2009 Oct 9 doi: 10.1210/en.2009-0527. PMID: 19819964Free PMC Article
Graham GJ, Ren Q, Dilks JR, Blair P, Whiteheart SW, Flaumenhaft R
Blood 2009 Jul 30;114(5):1083-90. Epub 2009 Apr 24 doi: 10.1182/blood-2009-03-210211. PMID: 19395672Free PMC Article

Prognosis

Fujimura K, Fujimoto T, Takemoto M, Oda K, Shimomura T, Maehama S, Kuramoto A
Thromb Haemost 1990 Feb 19;63(1):103-11. PMID: 2339346

Clinical prediction guides

Pluthero FG, Kahr WHA
Platelets 2023 Dec;34(1):2157808. doi: 10.1080/09537104.2022.2157808. PMID: 36572649
Buckley C, Nelson RJ, Mullins LJ, Sharp MGF, Fleming S, Kenyon CJ, Semprini S, Steppan D, Peti-Peterdi J, Kurtz A, Christian H, Mullins JJ
J Biol Chem 2018 Jan 26;293(4):1151-1162. Epub 2017 Nov 9 doi: 10.1074/jbc.RA117.000160. PMID: 29123029Free PMC Article
Graham GJ, Ren Q, Dilks JR, Blair P, Whiteheart SW, Flaumenhaft R
Blood 2009 Jul 30;114(5):1083-90. Epub 2009 Apr 24 doi: 10.1182/blood-2009-03-210211. PMID: 19395672Free PMC Article
Apitz-Castro R, Cruz MR, Ledezma E, Merino F, Ramirez-Duque P, Dangelmeier C, Holmsen H
Br J Haematol 1985 Mar;59(3):471-83. doi: 10.1111/j.1365-2141.1985.tb07334.x. PMID: 2982391
Weiss HJ, Lages B
Blood 1981 Jul;58(1):27-33. PMID: 6786394

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