Qualitative Platelet Defect

Categories: Blood diseases, Immune diseases
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Aliases & Classifications for Qualitative Platelet Defect

MalaCards integrated aliases for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 11 14
Qualitative Platelet Defects 53 31 33
Qualitative Platelet Deficiency 11 71
Granulopenic Thrombocytopathy 33
Dystrophic Thrombocytopathy 33
Haemorrhagic Thrombasthenia 33
Platelet Granule Defect 33
Thrombocytasthenia 33
Platelet Disorder 33
Thrombocytopathy 33
Platelet Defect 33
Thromboasthenia 33
Thrombopathy 33


External Ids:

Disease Ontology 11 DOID:11125
ICD9CM 34 287.1
SNOMED-CT 68 191311007
ICD10 31 D69.1
UMLS 71 C0235604

Summaries for Qualitative Platelet Defect

MalaCards based summary: Qualitative Platelet Defect, also known as qualitative platelet defects, is related to factor v deficiency and myh-9 related disease. An important gene associated with Qualitative Platelet Defect is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Defects of contact activation system (CAS) and kallikrein/kinin system (KKS). The drugs Sodium citrate and Heparin, bovine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and myeloid, and related phenotypes are homeostasis/metabolism and cardiovascular system

Related Diseases for Qualitative Platelet Defect

Diseases related to Qualitative Platelet Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 373)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 31.7 VWF F7 F3 F2
2 myh-9 related disease 31.4 GP1BA ANKRD26
3 gray platelet syndrome 31.3 VWF SELP ITGA2B
4 bernard-soulier syndrome 30.2 VWF THPO SELP ITGA2B GP1BA F7
5 factor viii deficiency 30.1 VWF F7 F3 F2
6 von willebrand disease, type 2 30.0 VWF GP1BA
7 hemophilia 30.0 VWF F2
8 heparin-induced thrombocytopenia 29.9 ITGA2B F3 F2
9 polycythemia 29.9 THPO F3 F2
10 migraine with or without aura 1 29.9 VWF F3 F2
11 severe covid-19 29.9 VWF F3 F2
12 von willebrand disease, type 1 29.9 VWF GP1BA F3
13 alpha-2-plasmin inhibitor deficiency 29.8 F7 F3 F2
14 scott syndrome 29.8 ITGA2B F2
15 blood platelet disease 29.8 VWF THPO SELP ITGA2B GP1BA F7
16 peptic ulcer disease 29.7 VWF F3 F2
17 myeloproliferative neoplasm 29.7 VWF THPO SELP
18 respiratory failure 29.6 VWF F3 F2
19 nonbacterial thrombotic endocarditis 29.6 VWF F7 F3 F2
20 factor xi deficiency 29.6 VWF F7 F3 F2
21 hemophilia a 29.6 VWF F7 F3 F2
22 pseudo-von willebrand disease 29.6 VWF GP1BA ANKRD26
23 hypersplenism 29.6 THPO F3 F2
24 liver cirrhosis 29.5 THPO F3 F2
25 disseminated intravascular coagulation 29.4 VWF F7 F3 F2
26 acute megakaryocytic leukemia 29.3 THPO ITGA2B GP1BA
27 thrombocytosis 29.3 VWF THPO SELP F3 F2
28 thrombophilia 29.2 VWF SELP F7 F3 F2
29 thrombasthenia 29.2 SELP ITGA2B GP1BA F3 F2
30 hemophilia b 29.1 VWF GP1BA F7 F3 F2
31 antiphospholipid syndrome 29.0 VWF SELP GP1BA F3 F2
32 essential thrombocythemia 28.9 VWF THPO SELP ITGA2B GP1BA
33 amegakaryocytic thrombocytopenia, congenital 28.9 THPO ITGA2B GP1BA ANKRD26
34 deficiency anemia 28.9 VWF THPO GP1BA F7 F3 F2
35 acquired thrombocytopenia 28.9 THPO ITGA2B GP1BA F3 ANKRD26
36 polycythemia vera 28.8 VWF THPO SELP GP1BA F3 F2
37 thrombocytopenic purpura, autoimmune 28.7 THPO SELP ITGA2B GP1BA F3 F2
38 glanzmann thrombasthenia 1 28.7 VWF SELP ITGA2B GP1BA F7 F3
39 stroke, ischemic 28.6 VWF SELP GP1BA F7 F3 F2
40 thrombocytopenia due to platelet alloimmunization 28.6 VWF THPO SELP ITGA2B GP1BA F3
41 von willebrand's disease 28.6 VWF SELP ITGA2B GP1BA F7 F3
42 hemorrhagic disease 28.6 VWF THPO ITGA2B GP1BA F7 F3
43 purpura 28.5 VWF THPO SELP ITGA2B GP1BA F3
44 thrombosis 28.2 VWF SELP ITGA2B GP1BA F7 F3
45 thrombocytopenia 28.1 VWF THPO SELP ITGA2B GP1BA F3
46 quebec platelet disorder 11.7
47 platelet disorder, familial, with associated myeloid malignancy 11.6
48 stormorken syndrome 11.6
49 rare hemorrhagic disorder due to a qualitative platelet defect 11.5
50 runx1 familial platelet disorder with associated myeloid malignancies 11.3

Comorbidity relations with Qualitative Platelet Defect via Phenotypic Disease Network (PDN):

Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Heart Disease

Graphical network of the top 20 diseases related to Qualitative Platelet Defect:

Diseases related to Qualitative Platelet Defect

Symptoms & Phenotypes for Qualitative Platelet Defect

MGI Mouse Phenotypes related to Qualitative Platelet Defect:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ANKRD26 F2 F3 F7 GP1BA ITGA2B
2 cardiovascular system MP:0005385 9.23 ANKRD26 F2 F3 F7 HSD17B12 ITGA2B

Drugs & Therapeutics for Qualitative Platelet Defect

Drugs for Qualitative Platelet Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sodium citrate Approved, Investigational 68-04-2 23431961
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
Polygeline Experimental 66455-30-9
5 polysaccharide-K
6 Antibodies, Monoclonal
7 Blood Substitutes
8 Pharmaceutical Solutions
9 Plasma Substitutes
Prasugrel Hydrochloride 389574-19-0
11 Platelet Aggregation Inhibitors
12 Factor VIII
13 Hemostatics
14 Citrate
15 Calcium heparin
16 Immunoglobulins
17 Antibodies

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Eltrombopag at Escalated Doses up to 150mg in Patients With Persistent and Chronic Immune Thrombocytopenia (ITP) Not Responsive to 75 mg Completed NCT01880047 Phase 2 Eltrombopag;Placebo
2 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
3 Study on Avatrombopag for the Promotion of Platelet Engraftment After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT05143892 Phase 2 Avatrombopag
4 A Phase II Trial of Avatrombopag for the Treatment of Thrombocytopenia After Allogeneic Hematopoietic Stem Cell Transplant Withdrawn NCT04312789 Phase 2 Avatrombopag
5 Correlation Between Platelet Function Analyzer-100 Testing and Bleeding Events After Percutaneous Kidney Biopsy Unknown status NCT03762707
6 Evaluation of Platelet Surface Glycoproteins in Patients With Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Unknown status NCT03648190
7 A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
8 Comparison of the Effects of Gelatine (Gelofusine ® B. Braun) Versus Crystalloid Solution (Ringerfundin ® B. Braun) for Volume Therapy on Coagulation, Thrombocyte Function and Thrombelastometry (ROTEM ®), in Elective Hip Replacement Surgery Unknown status NCT02461329 Gelofusine® B. Braun;Ringerfundin ® B. Braun
9 Influence of Cardiopulmonary Bypass on Platelet Function in Patients With Preoperative Dual Antiplatelet Therapy: Completed NCT02979158
10 Ex-Vivo Reversion of Platelet Inhibition Induced by Prasugrel Completed NCT01839968
11 Platelet Function in Minimal Extracorporeal Circulation Versus Conventional Extracorporeal Circulation in Coronary Artery Bypass Grafting Completed NCT01935245
12 Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study) Recruiting NCT05196789
13 ATHN Transcends: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment in People With Non-Neoplastic Hematologic Disorders Recruiting NCT04398628
14 Development of a Device for Evaluating Primary Hemostasis Under Whole Blood Flow Conditions Recruiting NCT03773159
15 Characterization of New Candidate Genes in Cases of Human Inherited Thrombocytopenia (CATCH). Molecular Etiologies in Cases of Thrombocytopenia Enrolling by invitation NCT04272970
16 PLATELET Function Assay With Flow Imaging on ImageSTREAM Cytometer Not yet recruiting NCT04842760
17 Cohort Study Examining the Effects of Short Daily Hemodialysis As Compared to Conventional Hemodialysis in Outpatients Treated at St Joseph's Healthcare, Hamilton Withdrawn NCT00182156

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Genetic Tests for Qualitative Platelet Defect

Anatomical Context for Qualitative Platelet Defect

Organs/tissues related to Qualitative Platelet Defect:

MalaCards : Bone Marrow, Whole Blood, Myeloid, Kidney, Bone, Liver, Heart

Publications for Qualitative Platelet Defect

Articles related to Qualitative Platelet Defect:

(show top 50) (show all 1173)
# Title Authors PMID Year
Assessment of primary hemostasis by PFA-100 analysis in a tertiary care center. 53 62
10928477 2000
Correction to: Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies. 62
36258014 2022
A RUNX1-FPDMM rhesus macaque model reproduces the human phenotype and predicts challenges to curative gene therapies. 62
36322931 2022
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger. 62
36291092 2022
RUNX1-deficient human megakaryocytes demonstrate thrombopoietic, and platelet half-life and functional defects. 62
36219879 2022
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium. 62
35533071 2022
D121 Located within the DRY Motif of P2Y12 Is Essential for P2Y12-Mediated Platelet Function. 62
36232816 2022
Management of a Left Atrial Appendage Thrombus Due to Atrial Fibrillation Complicating Québec Platelet Disorder. 62
35436534 2022
Screening and diagnosis of inherited platelet disorders. 62
35341454 2022
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? 62
36465576 2022
Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion. 62
35135432 2022
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease. 62
35349645 2022
Screening platelet function in blood donors. 62
35748562 2022
Platelet dysfunction in platelet-type von Willebrand disease due to the constitutive triggering of the Lyn-PECAM1 inhibitory pathway. 62
34407603 2022
Small RNA sequencing and identification of papaya (Carica papaya L.) miRNAs with potential cross-kingdom human gene targets. 62
35570207 2022
Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies. 62
35884491 2022
[Allogeneic hematopoietic stem cell transplantation for Familial platelet disorder with a propensity for acute myeloid malignancies with Runx1 germline mutations: a case report and literature review]. 62
35968597 2022
Validation and clinical application of transactivation assays for RUNX1 variant classification. 62
35026845 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. 62
35150448 2022
Platelet Dysfunction in Blood Donors Detected by Platelet Function Analyzer PFA-100™. 62
35783880 2022
A Systematic Review of the Role of Runt-Related Transcription Factor 1 (RUNX1) in the Pathogenesis of Hematological Malignancies in Patients With Inherited Bone Marrow Failure Syndromes. 62
35765406 2022
Glanzmann thrombasthenia: Use of hemocoagulase (BotroClot) for arrest of bleeding during a primary tooth endodontic procedure. 62
36254965 2022
How I manage pregnancy in women with Glanzmann thrombasthenia. 62
35286390 2022
Cirrhosis and Coagulopathy: Mechanisms of Hemostasis Changes in Liver Failure and Their Management. 62
35518552 2022
Longitudinal multiparametric characterization of platelet dysfunction in COVID-19: Effects of disease severity, anticoagulation therapy and inflammatory status. 62
35066204 2022
SARS-CoV-2 vaccination and ITP in patients with de novo or preexisting ITP. 62
34587251 2022
Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review. 62
35147601 2022
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. 62
33616470 2022
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding. 62
34758189 2022
Late recanalization after complete occlusion of patent ductus arteriosus in a Pembroke Welsh Corgi with von Willebrand disease. 62
34538019 2022
Germline RUNX1 translocation in familial platelet disorder with propensity to myeloid malignancies. 62
33462643 2022
Thrombocytopathy vs Platelet hyper-reactivity in COVID-19: diverse pathologies, disease outcomes and therapeutic implications. 62
34847829 2022
Gasdermin D-dependent platelet pyroptosis exacerbates NET formation and inflammation in severe sepsis. 62
35967457 2022
Role of neutrophils, platelets, and extracellular vesicles and their interactions in COVID-19-associated thrombopathy. 62
34672094 2022
2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines. 62
34977447 2021
Inherited Platelet Disorders. 62
34391603 2021
Immune cells surveil aberrantly sialylated O-glycans on megakaryocytes to regulate platelet count. 62
34324649 2021
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies. 62
33692461 2021
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. 62
34233450 2021
Use of rFVIIa in Preventing Recurrent Intra-articular Hemorrhages in a 15-Year-Old Patient With Glanzmann Thrombasthenia. 62
33625096 2021
Circulating MR-proADM levels, as an indicator of endothelial dysfunction, for early risk stratification of mid-term mortality in COVID-19 patients. 62
34461254 2021
Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test. 62
34347927 2021
Influence of cysteine-directed mutations at the Ω-loops on peroxidase activity of human cytochrome c. 62
34224685 2021
B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations. 62
34424323 2021
Acquired platelet defect associated with gabapentin treatment: a case-report. 62
32835556 2021
Platelet-Therapeutics to Improve Tissue Regeneration and Wound Healing-Physiological Background and Methods of Preparation. 62
34440073 2021
Anemia-Induced Bleeding in Patients with Platelet Disorders. 62
34332828 2021
Lower Antiplatelet Effect of Aspirin in Essential Thrombocythemia than in Coronary Artery Disease. 62
34235392 2021
[Partial thrombosis of the corpus cavernosum: A new case with good outcomes under non-steroidal anti-inflammatory drugs]. 62
33941456 2021
Platelet storage pool disorder: multidisciplinary planning in pregnancy. 62
33952562 2021

Variations for Qualitative Platelet Defect

Expression for Qualitative Platelet Defect

Search GEO for disease gene expression data for Qualitative Platelet Defect.

Pathways for Qualitative Platelet Defect

Pathways related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
12.01 VWF GP1BA F7 F3 F2
4 11.21 VWF ITGA2B F2
5 11 ITGA2B F3 F2
Show member pathways
Show member pathways
10.95 F7 F2
Show member pathways
10.84 VWF GP1BA

GO Terms for Qualitative Platelet Defect

Cellular components related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10 F2 F3 F7 GP1BA SELP THPO
2 collagen-containing extracellular matrix GO:0062023 9.97 VWF F7 F3 F2
3 serine-type endopeptidase complex GO:1905370 9.62 F7 F2
4 platelet alpha granule membrane GO:0031092 9.56 SELP ITGA2B
5 external side of plasma membrane GO:0009897 9.56 SELP ITGA2B GP1BA F3 F2
6 serine-type peptidase complex GO:1905286 8.92 F7 F3

Biological processes related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.95 THPO F7 F3
2 megakaryocyte development GO:0035855 9.83 THPO GP1BA
3 fibrinolysis GO:0042730 9.81 GP1BA F2
4 positive regulation of blood coagulation GO:0030194 9.8 F7 F2
5 positive regulation of leukocyte tethering or rolling GO:1903238 9.76 SELP GP1BA
6 positive regulation of positive chemotaxis GO:0050927 9.73 F7 F3
7 platelet activation GO:0030168 9.73 VWF GP1BA F2
8 regulation of blood coagulation GO:0030193 9.71 GP1BA F2
9 positive regulation of platelet activation GO:0010572 9.67 GP1BA SELP
10 blood coagulation GO:0007596 9.65 VWF GP1BA F7 F3 F2
11 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F7 F3
12 regulation of body fluid levels GO:0050878 9.32 F7 F2
13 hemostasis GO:0007599 9.1 VWF GP1BA F7 F3 F2

Sources for Qualitative Platelet Defect

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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