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Platelet signal processing defect

MedGen UID:
357448
•Concept ID:
C1868199
•
Disease or Syndrome
Synonym: Platelet Signal Processing Defect
 
Monarch Initiative: MONDO:0008258
OMIM®: 173590

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Impaired epinephrine-induced platelet aggregation
MedGen UID:
870285
•Concept ID:
C4024727
•
Finding
Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Protein Phosphorylation Signaling Cascades in Autism: The Role of mTOR Pathway.
Boksha IS, Prokhorova TA, Tereshkina EB, Savushkina OK, Burbaeva GS
Biochemistry (Mosc) 2021 May;86(5):577-596. doi: 10.1134/S0006297921050072. PMID: 33993859
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM, Gill JC, Flood VH, Jakab DA, Friedman KD, Haberichter SL
Blood 2012 May 10;119(19):4543-53. Epub 2012 Mar 19 doi: 10.1182/blood-2011-06-360875. PMID: 22431572Free PMC Article
Fourier and fractal analysis of maxillary alveolar ridge repair using platelet rich plasma (PRP) and inorganic bovine bone.
Wojtowicz A, Chaberek S, Kryst L, Urbanowska E, Ciechowicz K, Ostrowski K
Int J Oral Maxillofac Surg 2003 Feb;32(1):84-6. doi: 10.1054/ijom.2002.0310. PMID: 12653239
Cultured skin fibroblasts as a cell model for investigating schizophrenia.
Mahadik SP, Mukherjee S
J Psychiatr Res 1996 Nov-Dec;30(6):421-39. doi: 10.1016/s0022-3956(96)00025-8. PMID: 9023786
Digital image analysis of platelet-extracellular matrix interactions: studies in von Willebrand disease patients and aspirin-treated donors.
Díaz-Ricart M, Carretero M, Castillo R, Ordinas A, Escolar G
Haemostasis 1994 Jul-Aug;24(4):219-29. doi: 10.1159/000217105. PMID: 7988951

Diagnosis

Platelet proteomics: from discovery to diagnosis.
Looße C, Swieringa F, Heemskerk JWM, Sickmann A, Lorenz C
Expert Rev Proteomics 2018 Jun;15(6):467-476. Epub 2018 Jun 8 doi: 10.1080/14789450.2018.1480111. PMID: 29787335
Digital image analysis of platelet-extracellular matrix interactions: studies in von Willebrand disease patients and aspirin-treated donors.
Díaz-Ricart M, Carretero M, Castillo R, Ordinas A, Escolar G
Haemostasis 1994 Jul-Aug;24(4):219-29. doi: 10.1159/000217105. PMID: 7988951

Therapy

Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet's signaling cascades as new outcome measures in clinical trials.
Pellerin D, Çaku A, Fradet M, Bouvier P, Dubé J, Corbin F
Biomarkers 2016 Sep;21(6):497-508. Epub 2016 Apr 8 doi: 10.3109/1354750X.2016.1160289. PMID: 27058300
SU11248 is a novel FLT3 tyrosine kinase inhibitor with potent activity in vitro and in vivo.
O'Farrell AM, Abrams TJ, Yuen HA, Ngai TJ, Louie SG, Yee KW, Wong LM, Hong W, Lee LB, Town A, Smolich BD, Manning WC, Murray LJ, Heinrich MC, Cherrington JM
Blood 2003 May 1;101(9):3597-605. Epub 2003 Jan 16 doi: 10.1182/blood-2002-07-2307. PMID: 12531805
Moderate and advanced Alzheimer's patients exhibit platelet activation differences.
Davies TA, Long HJ, Tibbles HE, Sgro KR, Wells JM, Rathbun WH, Seetoo KF, McMenamin ME, Smith SJ, Feldman RG, Levesque CA, Fine RE, Simons ER
Neurobiol Aging 1997 Mar-Apr;18(2):155-62. doi: 10.1016/s0197-4580(97)00016-x. PMID: 9258892
Digital image analysis of platelet-extracellular matrix interactions: studies in von Willebrand disease patients and aspirin-treated donors.
Díaz-Ricart M, Carretero M, Castillo R, Ordinas A, Escolar G
Haemostasis 1994 Jul-Aug;24(4):219-29. doi: 10.1159/000217105. PMID: 7988951

Prognosis

Phosphorylation Regulates CAP1 (Cyclase-Associated Protein 1) Functions in the Motility and Invasion of Pancreatic Cancer Cells.
Wu H, Hasan R, Zhang H, Gray J, Williams D, Miller M, Allen F, Lee V, Kelly T, Zhou GL
Sci Rep 2019 Mar 20;9(1):4925. doi: 10.1038/s41598-019-41346-3. PMID: 30894654Free PMC Article
Hemoglobin and mean platelet volume predicts diffuse T1-MRI white matter volume decrease in sickle cell disease patients.
Choi S, Bush AM, Borzage MT, Joshi AA, Mack WJ, Coates TD, Leahy RM, Wood JC
Neuroimage Clin 2017;15:239-246. Epub 2017 Apr 29 doi: 10.1016/j.nicl.2017.04.023. PMID: 28540180Free PMC Article
Fourier and fractal analysis of maxillary alveolar ridge repair using platelet rich plasma (PRP) and inorganic bovine bone.
Wojtowicz A, Chaberek S, Kryst L, Urbanowska E, Ciechowicz K, Ostrowski K
Int J Oral Maxillofac Surg 2003 Feb;32(1):84-6. doi: 10.1054/ijom.2002.0310. PMID: 12653239
SU11248 is a novel FLT3 tyrosine kinase inhibitor with potent activity in vitro and in vivo.
O'Farrell AM, Abrams TJ, Yuen HA, Ngai TJ, Louie SG, Yee KW, Wong LM, Hong W, Lee LB, Town A, Smolich BD, Manning WC, Murray LJ, Heinrich MC, Cherrington JM
Blood 2003 May 1;101(9):3597-605. Epub 2003 Jan 16 doi: 10.1182/blood-2002-07-2307. PMID: 12531805
Cultured skin fibroblasts as a cell model for investigating schizophrenia.
Mahadik SP, Mukherjee S
J Psychiatr Res 1996 Nov-Dec;30(6):421-39. doi: 10.1016/s0022-3956(96)00025-8. PMID: 9023786

Clinical prediction guides

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Egot M, Lasne D, Poirault-Chassac S, Mirault T, Pidard D, Dreano E, Elie C, Gandrille S, Marchelli A, Baruch D, Rendu J, Fauré J, Flaujac C, Gratacap MP, Sié P, Gaussem P, Salomon R, Baujat G, Bachelot-Loza C
Br J Haematol 2021 Mar;192(5):909-921. Epub 2021 Feb 2 doi: 10.1111/bjh.17346. PMID: 33528045
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A
J Allergy Clin Immunol 2018 Aug;142(2):630-646. Epub 2018 Jan 31 doi: 10.1016/j.jaci.2017.11.061. PMID: 29391254
Hemoglobin and mean platelet volume predicts diffuse T1-MRI white matter volume decrease in sickle cell disease patients.
Choi S, Bush AM, Borzage MT, Joshi AA, Mack WJ, Coates TD, Leahy RM, Wood JC
Neuroimage Clin 2017;15:239-246. Epub 2017 Apr 29 doi: 10.1016/j.nicl.2017.04.023. PMID: 28540180Free PMC Article
Cultured skin fibroblasts as a cell model for investigating schizophrenia.
Mahadik SP, Mukherjee S
J Psychiatr Res 1996 Nov-Dec;30(6):421-39. doi: 10.1016/s0022-3956(96)00025-8. PMID: 9023786

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