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Abnormal platelet shape

MedGen UID:
868472
Concept ID:
C4022866
Anatomical Abnormality
HPO: HP:0012524

Definition

A deviation from the normal discoid platelet shape. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal platelet shape

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).
Thrombocytopenia 2
MedGen UID:
349976
Concept ID:
C1861185
Disease or Syndrome
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants.

Professional guidelines

PubMed

Repsold L, Pool R, Karodia M, Tintinger G, Joubert AM
Microsc Res Tech 2022 Jun;85(6):2222-2233. Epub 2022 Feb 17 doi: 10.1002/jemt.24079. PMID: 35174933
Thiele J, Kvasnicka HM, Zankovich R, Diehl V
Ann Hematol 2001 Mar;80(3):160-5. doi: 10.1007/s002770000278. PMID: 11320901
Blanchette VS, Rand ML
Semin Perinatol 1997 Feb;21(1):53-62. doi: 10.1016/s0146-0005(97)80020-1. PMID: 9190034

Recent clinical studies

Etiology

Hadar N, Porgador O, Cohen I, Levi H, Dolgin V, Yogev Y, Sued-Hendrickson S, Shelef I, Didkovsky E, Eskin-Schwartz M, Birk OS
Eur J Hum Genet 2024 May;32(5):550-557. Epub 2024 Mar 4 doi: 10.1038/s41431-024-01559-1. PMID: 38433265Free PMC Article
Koshman YE, Bielinski AL, Bird BM, Green JR, Kowalkowski KL, Lai-Zhang J, Mahalingaiah PK, Sawicki JW, Talaty NN, Wilsey AS, Zafiratos MT, Van Vleet TR
J Pharmacol Toxicol Methods 2023 Mar-Apr;120:107251. Epub 2023 Feb 13 doi: 10.1016/j.vascn.2023.107251. PMID: 36792039
Zini G, d'Onofrio G
Br J Haematol 2023 Feb;200(4):404-419. Epub 2022 Oct 6 doi: 10.1111/bjh.18489. PMID: 36203344Free PMC Article
Elsayem K, Darwish AS, AbouZeid AA, Kamel N, Dahab MM, El-Naggar O
J Pediatr Surg 2022 Mar;57(3):488-491. Epub 2021 Apr 4 doi: 10.1016/j.jpedsurg.2021.03.058. PMID: 33933265
Liu Z, Mei T
Mol Med Rep 2018 Oct;18(4):4016-4022. Epub 2018 Aug 9 doi: 10.3892/mmr.2018.9373. PMID: 30106156

Diagnosis

Chang HY, Yazdani A, Li X, Douglas KAA, Mantzoros CS, Karniadakis GE
Biophys J 2018 Oct 2;115(7):1371-1382. Epub 2018 Aug 30 doi: 10.1016/j.bpj.2018.08.031. PMID: 30224049Free PMC Article
Lassila R
Semin Thromb Hemost 2016 Apr;42(3):185-90. Epub 2016 Feb 17 doi: 10.1055/s-0036-1571307. PMID: 26886396
Latger-Cannard V, Fenneteau O, Salignac S, Lecompte TP, Schlegel N
Methods Mol Biol 2013;992:207-25. doi: 10.1007/978-1-62703-339-8_16. PMID: 23546716
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article
Blanchette VS, Rand ML
Semin Perinatol 1997 Feb;21(1):53-62. doi: 10.1016/s0146-0005(97)80020-1. PMID: 9190034

Therapy

Koshman YE, Bielinski AL, Bird BM, Green JR, Kowalkowski KL, Lai-Zhang J, Mahalingaiah PK, Sawicki JW, Talaty NN, Wilsey AS, Zafiratos MT, Van Vleet TR
J Pharmacol Toxicol Methods 2023 Mar-Apr;120:107251. Epub 2023 Feb 13 doi: 10.1016/j.vascn.2023.107251. PMID: 36792039
Qin M, Luo P, Wen X, Li J
J Clin Lipidol 2022 Jan-Feb;16(1):33-39. Epub 2021 Nov 19 doi: 10.1016/j.jacl.2021.11.004. PMID: 34887220
Conran N
Expert Opin Investig Drugs 2015 May;24(5):595-602. Epub 2015 Feb 15 doi: 10.1517/13543784.2015.1012292. PMID: 25682977
Voudoukis E, Karmiris K, Koutroubakis IE
World J Gastroenterol 2014 Mar 28;20(12):3180-90. doi: 10.3748/wjg.v20.i12.3180. PMID: 24696603Free PMC Article
Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C
Am J Hematol 2014 Mar;89(3):320-4. doi: 10.1002/ajh.23619. PMID: 24166850

Prognosis

Koshman YE, Bielinski AL, Bird BM, Green JR, Kowalkowski KL, Lai-Zhang J, Mahalingaiah PK, Sawicki JW, Talaty NN, Wilsey AS, Zafiratos MT, Van Vleet TR
J Pharmacol Toxicol Methods 2023 Mar-Apr;120:107251. Epub 2023 Feb 13 doi: 10.1016/j.vascn.2023.107251. PMID: 36792039
Datta A, Haynes CL, Barocas VH
Integr Biol (Camb) 2017 Mar 1;9(3):248-256. Epub 2017 Feb 7 doi: 10.1039/c6ib00226a. PMID: 28168257
Vinholt PJ, Hvas AM, Frederiksen H, Bathum L, Jørgensen MK, Nybo M
Thromb Res 2016 Dec;148:136-142. Epub 2016 Aug 20 doi: 10.1016/j.thromres.2016.08.012. PMID: 27586589
Mody NA, King MR
Biophys J 2008 Sep;95(5):2539-55. Epub 2008 May 30 doi: 10.1529/biophysj.107.127670. PMID: 18515387Free PMC Article
Milton JG, Hutton RA, Tuddenham EG, Frojmovic MM
J Lab Clin Med 1985 Sep;106(3):326-35. PMID: 4031633

Clinical prediction guides

Tavakkoli Tabassi K, Tafazoli N, Hamidi Alamdari D, Soltani S
Urol J 2024 Mar 24;21(2):126-132. doi: 10.22037/uj.v20i.7915. PMID: 38581149
Hadar N, Porgador O, Cohen I, Levi H, Dolgin V, Yogev Y, Sued-Hendrickson S, Shelef I, Didkovsky E, Eskin-Schwartz M, Birk OS
Eur J Hum Genet 2024 May;32(5):550-557. Epub 2024 Mar 4 doi: 10.1038/s41431-024-01559-1. PMID: 38433265Free PMC Article
Koshman YE, Bielinski AL, Bird BM, Green JR, Kowalkowski KL, Lai-Zhang J, Mahalingaiah PK, Sawicki JW, Talaty NN, Wilsey AS, Zafiratos MT, Van Vleet TR
J Pharmacol Toxicol Methods 2023 Mar-Apr;120:107251. Epub 2023 Feb 13 doi: 10.1016/j.vascn.2023.107251. PMID: 36792039
Chang HY, Yazdani A, Li X, Douglas KAA, Mantzoros CS, Karniadakis GE
Biophys J 2018 Oct 2;115(7):1371-1382. Epub 2018 Aug 30 doi: 10.1016/j.bpj.2018.08.031. PMID: 30224049Free PMC Article
Liu Z, Mei T
Mol Med Rep 2018 Oct;18(4):4016-4022. Epub 2018 Aug 9 doi: 10.3892/mmr.2018.9373. PMID: 30106156

Recent systematic reviews

Chen JW, Zeoli T, Hughes NC, Lane A, Berkman RA
Spine J 2024 Nov;24(11):2026-2034. Epub 2024 Jun 21 doi: 10.1016/j.spinee.2024.06.018. PMID: 38909910

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