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Reduced platelet dense granules

MedGen UID:
1785275
Concept ID:
C5539663
Finding
HPO: HP:0033535

Definition

Decreased number of platelet dense granules, a type of platelet organelle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced platelet dense granules

Conditions with this feature

Thrombocytopenia 7
MedGen UID:
1768257
Concept ID:
C5436874
Disease or Syndrome
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.
Hermansky-Pudlak syndrome 11
MedGen UID:
1727728
Concept ID:
C5436936
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.

Recent clinical studies

Etiology

Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Yamaguchi A, Stanger L, Freedman JC, Prieur A, Thav R, Tena J, Holman TR, Holinstat M
Clin Transl Sci 2022 Oct;15(10):2378-2391. Epub 2022 Jul 25 doi: 10.1111/cts.13366. PMID: 35791734Free PMC Article
Goubran HA, Stakiw J, Radosevic M, Burnouf T
Semin Thromb Hemost 2014 Apr;40(3):296-305. Epub 2014 Mar 3 doi: 10.1055/s-0034-1370767. PMID: 24590421
Dovizio M, Alberti S, Guillem-Llobat P, Patrignani P
Basic Clin Pharmacol Toxicol 2014 Jan;114(1):118-27. Epub 2013 Nov 8 doi: 10.1111/bcpt.12156. PMID: 24118902
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

Diagnosis

Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
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
Sharma T, Brunet JG, Tasneem S, Smith SA, Morrissey JH, Hayward CPM
Int J Lab Hematol 2021 Dec;43(6):1557-1565. Epub 2021 Jun 29 doi: 10.1111/ijlh.13638. PMID: 34185390Free PMC Article
van Asten I, Blaauwgeers M, Granneman L, Heijnen HFG, Kruip MJHA, Beckers EAM, Coppens M, Eikenboom J, Tamminga RYJ, Pasterkamp G, Huisman A, van Galen KPM, Korporaal SJA, Schutgens REG, Urbanus RT
J Thromb Haemost 2020 Mar;18(3):706-713. Epub 2019 Dec 27 doi: 10.1111/jth.14698. PMID: 31815339Free PMC Article
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC
Haematologica 2017 Jun;102(6):1006-1016. Epub 2017 Mar 2 doi: 10.3324/haematol.2016.153577. PMID: 28255014Free PMC Article

Therapy

Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Chu X, Zhang J, Li Y, Yuan K, Wang X, Gui X, Sun Y, Geng C, Ju W, Xu M, Li Z, Zeng L, Xu K, Qiao J
Int Immunopharmacol 2023 Jul;120:110381. Epub 2023 May 26 doi: 10.1016/j.intimp.2023.110381. PMID: 37245302
Yamaguchi A, Stanger L, Freedman JC, Prieur A, Thav R, Tena J, Holman TR, Holinstat M
Clin Transl Sci 2022 Oct;15(10):2378-2391. Epub 2022 Jul 25 doi: 10.1111/cts.13366. PMID: 35791734Free PMC Article
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
Addonizio VP
Hematol Oncol Clin North Am 1990 Feb;4(1):145-55. PMID: 2179210

Prognosis

Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Sharma T, Brunet JG, Tasneem S, Smith SA, Morrissey JH, Hayward CPM
Int J Lab Hematol 2021 Dec;43(6):1557-1565. Epub 2021 Jun 29 doi: 10.1111/ijlh.13638. PMID: 34185390Free PMC Article
Verni CC, Davila A, Sims CA, Diamond SL
J Appl Lab Med 2020 Nov 1;5(6):1253-1264. doi: 10.1093/jalm/jfaa047. PMID: 32674119Free PMC Article
van Asten I, Blaauwgeers M, Granneman L, Heijnen HFG, Kruip MJHA, Beckers EAM, Coppens M, Eikenboom J, Tamminga RYJ, Pasterkamp G, Huisman A, van Galen KPM, Korporaal SJA, Schutgens REG, Urbanus RT
J Thromb Haemost 2020 Mar;18(3):706-713. Epub 2019 Dec 27 doi: 10.1111/jth.14698. PMID: 31815339Free PMC Article
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group
J Clin Invest 2015 Sep;125(9):3600-5. Epub 2015 Aug 17 doi: 10.1172/JCI80347. PMID: 26280575Free PMC Article

Clinical prediction guides

Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Schlagenhauf A, Bohler S, Kunze M, Strini T, Haidl H, Erlacher M, Zieger B
Cells 2022 Aug 17;11(16) doi: 10.3390/cells11162563. PMID: 36010639Free PMC Article
Abraham S, Ma L, Kong X, Askari S, Edelstein LC, McKenzie SE
Thromb Res 2021 Jun;202:67-73. Epub 2021 Mar 8 doi: 10.1016/j.thromres.2021.03.003. PMID: 33770537
Yuan Y, Liu T, Huang X, Chen Y, Zhang W, Li T, Yang L, Chen Q, Wang Y, Wei A, Li W
Blood 2021 Apr 1;137(13):1804-1817. doi: 10.1182/blood.2020007389. PMID: 33513603Free PMC Article
Ngo ATP, Sheriff J, Rocheleau AD, Bucher M, Jones KR, Sepp AI, Malone LE, Zigomalas A, Maloyan A, Bahou WF, Bluestein D, McCarty OJT, Haley KM
Platelets 2020;31(1):68-78. Epub 2019 Feb 27 doi: 10.1080/09537104.2019.1573314. PMID: 30810440Free PMC Article

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